Nosology of Genetic Skeletal Disorders: 2023 revision

The article with the new Nosology, based on the dyadic naming system, has been published the American Journal of Medical Genetics (Am J Med Genet A. 2023 Feb 13. doi: 10.1002/ajmg.a.63132).

Thanks to the Université de Lausanne, it is in Open Access and can be downloaded at the journal's site as well as here: Nosology of Genetic Skeletal Disorders, 2023 revision, PDF download

The table in the article is provided below. It is searchable (using the browser's search function) and contains direct (clickable) links to OMIM, courtesy of the International Skeletal Dysplasia Society. Please do not forget to read the original article regarding the relationship between the Nosology and MIM.

Also, you use the Table, please do not forget to acknowledge the ISDS and cite the original Journal article. Thank you. 

The Nosology of Genetic Skeletal Disorders Table


Group number/ numer of disorder Name of Group / Name of Disorder Inheritance Gene or locus MIM No. Notes
Group 1 FGFR3 chondrodysplasias        
NOS 01-0010 Thanatophoric dysplasia (type 1), FGFR3-related AD FGFR3 187600 Includes previous "platyspondylic dysplasia type San Diego"
NOS 01-0020 Thanatophoric dysplasia (type 2), FGFR3-related AD FGFR3 187601 radiographic differences between type 1 and type 2 are correlated to specific FGFR3 variants
NOS 01-0030 Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN), FGFR3-related AD FGFR3 616482  
NOS 01-0040 Achondroplasia, FGFR3-related AD FGFR3 100800  
NOS 01-0050 Hypochondroplasia, FGFR3-related AD FGFR3 146000  
  See also group 33 for craniosynostosis syndromes linked to FGFR3 variants, as well as CATSHL in group 30 and LADD syndrome in group 40 for other FGFR3-related phenotypes; rare FGFR3 missense variants have been reported in idiopathic short stature but a causal link is not yet established and their significance remains unclear        
Group 2 Type 2 collagen disorders        
NOS 02-0010 Achondrogenesis, COL2A1-related (formerly type 2, type Langer-Saldino) AD COL2A1 200610 Achondrogenesis type 2 and hypochondrogenesis form one phenotypic continuum
NOS 02-0020 Hypochondrogenesis, COL2A1-related AD COL2A1 200610 Achondrogenesis type 2 and hypochondrogenesis form one phenotypic continuum
NOS 02-0030 Platyspondylic dysplasia, type Torrance, COL2A1-related AD COL2A1 151210 Often variants in the C-propeptide of collagen 2
NOS 02-0040 Spondyloepiphyseal dysplasia congenita (SEDC), COL2A1-related AD, AR* COL2A1 183900, 604864 Includes mild SED with premature onset arthrosis, also known as osteoarthrosis with mild chondrodysplasia; includes Namaqualand type hip dysplasia. Mild SED cases may resemble MED (see note). AR*: very rare SED cases with biallelic COL2A1 variants have been reported
NOS 02-0050 Spondyloepimetaphyseal dysplasia, COL2A1-related AD COL2A1 184250, 184253, 184255, 616583 Also known as "SED with marked metaphyseal changes". Includes SEMD type Strudwick, SMD type Algerian, SED type Stanescu, dysspondyloenchondromatosis, and some cases of SMD "corner fracture type"
NOS 02-0060 Kniest dysplasia, COL2A1-related AD COL2A1 156550  
NOS 02-0070 Spondyloperipheral dysplasia, COL2A1-related AD COL2A1 271700 Like Torrance dysplasia, often variants in the C-propeptide of collagen 2
NOS 02-0080 SED with metatarsal shortening, COL2A1-related AD COL2A1 609162 Often associated with the p.R275C variant; formerly "Czech dysplasia"
NOS 02-0090 Stickler syndrome, COL2A1-related AD COL2A1 108300 Monoallelic loss-of-function variants; See also COL11A1, COL11A2, COL9A1, COL9A2, COL9A3
NOS 02-0100 Dysplasia of the proximal femoral epiphyses, COL2A1-related AD COL2A1 150600, 608805 Heterogeneous condition, not all cases are due to COL2A1 variants (usually p.G393S; p.G717S; p.G1170S). The condition called "Meyer dysplasia of the hip" is not associated with COL2A1 variants
  "See also the Pseudoachondroplasia-multiple epiphyseal dysplasia group for recessively inherited variants of Stickler syndrome as well as for overlapping phenotypes with normal stature and premature onset arthrosis; as well as Spondylometaphyseal dysplasia Sutcliffe (or ""corner fractures"" type), FN1-related"        
Group 3 Type 11 collagen disorders        
NOS 03-0010 Stickler syndrome, COL11A1-related AD, MOS COL11A1 604841 Can also result from somatic mosaicism for a COL11A1 variant
NOS 03-0020 Marshall syndrome, COL11A1-related AD COL11A1 154780 One report with homozygous p.G901E variant in two affected sibs (PMID 22499343)
NOS 03-0030 Stickler syndrome, COL11A2-related (non-ocular type) AD COL11A2 184840  
NOS 03-0040 Fibrochondrogenesis, COL11A1-related AR, AD COL11A1 228520  
NOS 03-0050 Fibrochondrogenesis, COL11A2-related AR, AD COL11A2 614524  
NOS 03-0060 Otospondylomegaepiphyseal dysplasia (OSMED), recessive type, COL11A2-related AR COL11A2 215150  
NOS 03-0070 Otospondylomegaepiphyseal dysplasia (OSMED), dominant type, COL11A2-related AD COL11A2 184840 Formerly Weissenbacher-Zweymüller syndrome and Stickler syndrome type 3
  See also Stickler syndrome type 1 in collagen 2 group (Group 2) as well as recessive forms of Stickler syndrome in the Pseudoachondroplasia-Multiple epiphyseal dysplasia group (Group 9)        
Group 4 Sulfation disorders        
NOS 04-0010 Achondrogenesis, SLC26A2-related (formerly achondrogenesis type 1B, or type Fraccaro) AR SLC26A2 600972 Formerly known as achondrogenesis, type Fraccaro
NOS 04-0020 Atelosteogenesis, SLC26A2-related (formerly atelosteogenesis type 2) AR SLC26A2 256050 Includes former entities de la Chapelle dysplasia, McAlister dysplasia, and neonatal osseous dysplasia
NOS 04-0030 Diastrophic dysplasia, SLC26A2-related AR SLC26A2 222600  
NOS 04-0040 Multiple epiphyseal dysplasia, SLC26A2-related (autosomal recessive type, rMED) AR SLC26A2 226900 See also multiple epiphyseal dysplasias and pseudoachondroplasia group (group 9)
NOS 04-0050 Spondylo-epi-metaphyseal dysplasia, PAPSS2-related AR PAPSS2 612847 Formerly “SEMD Pakistani type”; includes the former "brachyolmia, recessive type" as well as the older entities "Toledo brachyolmia" and "Hobaek brachyolmia"
NOS 04-0060 Chondrodysplasia with congenital joint dislocations, IMPAD1-related AR IMPAD1 614078 Some features similar to Catel-Manzke syndrome, TGDS-related, as well as to Desbuquois syndrome, CANT1-related
NOS 04-0070 Chondrodysplasia with congenital joint dislocations, CHST3-related AR CHST3 143095 Includes recessive Larsen syndrome, humero-spinal dysostosis, and SED type Omani
NOS 04-0080 Chondrodysplasia with hypomyelinating leucodystrophy, SLC35B2-related AR SLC35B2 see 610788  
NOS 04-0090 Ehlers-Danlos syndrome, musculocontractural type, CHST14-related AR CHST14 601776 Includes adducted thumb-clubfoot syndrome
NOS 04-0100 Ehlers-Danlos syndrome, musculocontractural type, DSE-related AR DSE 615539  
NOS 04-0110 Osteochondrodysplasia, brachydactyly, and overlapping malformed digits (OCBMD), CHST11-related AR CHST11 618167  
NOS 04-0120 Developmental Delay with Corpus Callosum, Skeletal, and Renal Abnormalities, HS2ST1-related AR HS2ST1 619194  
  See also Filamin disorders (group 6) and dysplasias with multiple joint dislocations (group 5) for other conditions with dislocations, as well as brachydactyly, CHSY1-related, for phalangeal changes reminiscent of the sulfation disorders.        
Group 5 Dysplasias with multiple joint dislocations        
NOS 05-0010 Baratela-Scott syndrome, XYLT1-related AR XYLT1 615777 May have intellectual disability; formerly Desbuquois dysplasia type 2
NOS 05-0020 Desbuquois dysplasia (with accessory ossification centre in digit 2), CANT1-related AR CANT1 251450  
NOS 05-0030 Desbuquois dysplasia (with short metacarpals and elongated phalanges, Kim type), CANT1-related AR CANT1 251450  
NOS 05-0040 SEMD with joint laxity (Hall type or leptodactylic type), KIF22-related AD KIF22 603546  
NOS 05-0050 SEMD with joint laxity, EXOC6B-related AR EXOC6B 618395 Phenotype resembles SEMD-JL leptodactylic or type Hall (preceding line)
NOS 05-0060 SEMD with joint laxity (Beighton type), B3GALT6-related (Ehlers-Danlos syndrome, spondylodysplastic type 2, EDSSPD2) AR B3GALT6 271640 Includes MIM 609465 - Al-Gazali syndrome as neonatal form
NOS 05-0070 Ehlers-Danlos syndrome, spondylodysplastic type 1 (EDSSPD1), B4GALT7-related AR B4GALT7 130070 Formerly known as “EDS, progeroid form”; includes Larsen syndrome, La Reunion type; see also B3GALT6 deficiency above
NOS 05-0080 Multiple joint dislocations, short stature, craniofacial dysmorphisms, and skeletal dysplasia, with or without heart defects, B3GAT3-related AR B3GAT3 245600 The phenotype is very variable and has been reported also as "Larsen-like" or as "pseudodiastrophic dysplasia". Intellectual disability and severe osteopenia with fractures have been observed. The OMIM entry includes older descriptions that are probably unrelated.
NOS 05-0090 Skeletal dysplasia with joint laxity and advanced bone age (SDJLABA), CSGALNACT1-related AR CSGALNACT1 618870  
NOS 05-0100 Skeletal dysplasia with joint dislocations and amelogenesis imperfecta, SLC10A7-related AR SLC10A7 618363  
  Note: remarkably, this group contains several disorders of glycosaminoglycan synthesis. In spite of this group being named after a clinical feature (dysplasias with joint dislocations), the phenotypes in this group are related to those of the preceding group 4 ( sulfation disorders) and of the following group 6 (filamin disorders) justifying its placement here. - See also: Temtamy type brachydactyly, CHSY1-related, as well as SEMD with microcephaly, retinal dystrophy and hearing loss, PISD-related (Liberfarb syndrome), for other conditions with congenital dislocations, as well as EDSSPD3, SLC39A13-related, in the SEMD group.        
Group 6 Filamins and related disorders        
NOS 06-0010 Frontometaphyseal dysplasia, FLNA-related XL FLNA 305620 FLNA gene also associated with MIM 300049, MIM 300321, MIM 314400, MIM 300048, MIM 300049 (see) and conditions below in this group
NOS 06-0020 Frontometaphyseal dysplasia, MAP3K7-related AD MAP3K7 617137  
NOS 06-0030 Frontometaphyseal dysplasia, TAB2-related AD TAB2   No MIM entry yet; TAB2 gene also associated with MIM 614980 - Congenital heart defects, nonsyndromic, 2
NOS 06-0040 Cardiospondylocarpofacial syndrome, MAP3K7-related AD MAP3K7 157800  
NOS 06-0050 Melnick-Needles syndrome, FLNA-related XL FLNA 309350 Includes osteodysplasty
NOS 06-0060 Otopalatodigital syndrome type 1 (OPD1), FLNA-related XL FLNA 311300  
NOS 06-0070 Otopalatodigital syndrome type 2 (OPD2), FLNA-related XL FLNA 304120  
NOS 06-0080 Terminal osseous dysplasia (TOD), FLNA-related XL FLNA 300244 Includes digitocutaneous dysplasia
NOS 06-0090 Larsen syndrome, FLNB-related AD FLNB 150250  
NOS 06-0100 Atelosteogenesis type 1, FLNB-related AD FLNB 108720, 112310 Includes Boomerang dysplasia, Piepkorn dysplasia, and spondylohumerofemoral (giant cell) dysplasia
NOS 06-0110 Atelosteogenesis type 3, FLNB-related AD FLNB 108721  
NOS 06-0120 Spondylocarpotarsal synostosis syndrome, FLNB-related AR FLNB 272460  
NOS 06-0130 Spondylocarpotarsal synostosis syndrome, RFLNA-related AR RFLNA   Entity proven, no MIM entry yet
NOS 06-0140 Spondyocarpotarsal synostosis syndrome with contractures and pterygia, MYH3-related AD, AR MYH3 178110, 618469 frequently biallelic loss of function variants; monoallelic missense variants in the MYH3 gene associated with MIM 193700-Arthrogryposis 2A, and MIM 618436-Arthrogryposis 2B3
NOS 06-0150 Frank-ter Haar syndrome, SH3PXD2B-related AR SH3PXD2B 249420 Includes previous Borrone dermatocardioskeletal syndrome
  "See also Chondrodysplasia with congenital joint dislocations, CHST3-related (""recessive Larsen syndrome"") and the group of dysplasias with multiple dislocations, above (group 5)"        
Group 7 Proteoglycan core proteins disorders        
NOS 07-0010 Dyssegmental dysplasia, HSPG2-related AR HSPG2 224410, 224400 Variable severity; Includes both former Silverman-Handmaker and Rolland-Desbuquois types
NOS 07-0020 Myotonic chondrodystrophy, HSPG2-related (Schwartz-Jampel syndrome) AR HSPG2 255800 Variable severity; includes previous Burton dysplasia
NOS 07-0030 Spondylo-epiphyseal dysplasia, ACAN-related (dominant, Kimberley type) AD ACAN 608361  
NOS 07-0040 Spondylo-epi-metaphyseal dysplasia, ACAN-related (recessive, aggrecan type) AR ACAN 612813  
NOS 07-0050 Short stature with advanced bone age, ACAN-related AD ACAN 165800 Sometimes with osteochondritis dissecans; other cases short stature with no skeletal features and normal bone age
NOS 07-0060 SEMD, BGN-related (Camera type) XL BGN 300106 The BGN gene is also associated with a connective tissue- arterial aneurysms disorder (Meester-Loeys syndrome, MIM300989)
Group 8 TRPV4 disorders        
NOS 08-0010 Metatropic dysplasia, TRPV4-related AD, MOS TRPV4 156530 Includes so-called hyperplastic, lethal, and non-lethal forms. Can also result from somatic mosaicism for a TRPV4 variant.
NOS 08-0020 Spondyloepimetaphyseal dysplasia, TRPV4-related (Maroteaux type) AD TRPV4 184095 Previously known as "pseudo-Morquio syndrome type 2". Includes the obsolete MIM 168400-parastremmatic dwarfism entry, a phenotypic variant
NOS 08-0030 Spondyloepiphyseal dysplasia, Kozlowski type AD TRPV4 184252  
NOS 08-0040 Brachyolmia, TRPV4-related AD TRPV4 113500  
NOS 08-0050 Familial digital arthropathy with brachydactyly, TRPV4-related AD TRPV4 606835  
  Missense variants in the TRPV4 gene can be responsible for different types of peripheral neuropathies (see under MIM 605427). The TRPV4 skeletal phenotypes can sometimes be associated with neuropathy.        
Group 9 Pseudoachondroplasia and the multiple epiphyseal dysplasias        
NOS 09-0010 Pseudoachondroplasia, COMP-related AD COMP 177170  
NOS 09-0020 Multiple epiphyseal dysplasia, COMP-related AD COMP 132400  
NOS 09-0030 Multiple epiphyseal dysplasia, MATN3-related AD MATN3 607078  
NOS 09-0040 Multiple epiphyseal dysplasia, CANT1-related AR CANT1 617719  
NOS 09-0050 Multiple epiphyseal dysplasia, COL9A1-related AD COL9A1 614135  
NOS 09-0060 Multiple epiphyseal dysplasia, COL9A2-related AD COL9A2 600204  
NOS 09-0070 Multiple epiphyseal dysplasia, COL9A3-related AD COL9A3 600969  
NOS 09-0080 Stickler syndrome, recessive type, COL9A1-related AR COL9A1 614134 See also groups 2 and 3
NOS 09-0090 Stickler syndrome, recessive type, COL9A2-related AR COL9A2 614284  
NOS 09-0100 Stickler syndrome, recessive type, COL9A3-related AR COL9A3 120270  
NOS 09-0110 Multiple epiphyseal dysplasia with microcephaly and nystagmus (Lowry-Wood syndrome), RNU4ATAC-related AR RNU4ATAC 226960 See also Microcephalic osteodysplastic primordial dwarfism, RNU4ATAC-related, as well as Roifman syndrome, RNU4ATAC-related, both in the primordial dwarfism group (group 21), for conditions with different severity from the RNU4ATAC gene
  See also Multiple Epiphyseal Dysplasia, recessive type, SLC26A2-related, as well as ASPED. Some COL2A1 variants can make a MED-like phenotype. Some MED or MED-like phenotypes remain genetically unclear.        
Group 10 Skeletal disorders caused by abnormalities of cilia or ciliary signaling        
NOS 10-0010 Short rib–polydactyly syndrome (SRPS), DYNC2H1-related AR DYNC2H1 613091, 263520 There is significant clinical and radiological overlap between SRP1/3 and ATD. Some forms of both remain unlinked to the known genes. This gene can also be responsible for chondroectodermal dysplasia (Ellis-van Creveld), see below.
NOS 10-0020 Short rib–polydactyly syndrome (SRPS), IFT80-related AR IFT80 611263  
NOS 10-0030 Short rib–polydactyly syndrome (SRPS), IFT81-related AR IFT81 617895  
NOS 10-0040 Short rib–polydactyly syndrome (SRPS), WDR34-related AR WDR34 615633  
NOS 10-0050 Short rib–polydactyly syndrome (SRPS), WDR60-related AR WDR60 615503  
NOS 10-0060 Short rib–polydactyly syndrome (SRPS), DYNC2LI1-related AR DYNC2LI1 617088  
NOS 10-0070 Short rib–polydactyly syndrome (SRPS), NEK1-related AR NEK1 263520 Possibly also digenic inheritance combining NEK1 with DYNC2H1 variants
NOS 10-0080 Short rib–polydactyly syndrome (SRPS), IFT122-related AR IFT122 269860  
NOS 10-0090 Short rib–polydactyly syndrome (SRPS), WDR19-related AR WDR19 614091 WDR19 is associated with MIM 614091, 614376, 614378, 615633 as well as with nephronopthisis (MIM 614377), Senior-Loken syndrome (MIM 616307) and Mainzer-Saldino syndrome (see below)
NOS 10-0100 Short rib-polydactyly syndrome (SRPS), INTU-related AR INTU 617925  
NOS 10-0110 Short rib-polydactyly syndrome (SRPS), TRAF3IP1-related AR TRAF3IP1 see 607380 TRAF3IP1 also known as IFT154
NOS 10-0120 Endocrine-cerebro-osteo dysplasia (ECO), CILK1-related AR CILK1 612651  
NOS 10-0130 Short-rib thoracic dysplasia (formerly asphyxiating thoracic dysplasia - Jeune syndrome), DYNC2H1-related AR DYNC2H1 613091  
NOS 10-0140 Short-rib thoracic dysplasia (formerly asphyxiating thoracic dysplasia - Jeune syndrome), DYNC2LI1-related AR DYNC2LI1 see 617088  
NOS 10-0150 Short-rib thoracic dysplasia (formerly asphyxiating thoracic dysplasia - Jeune syndrome), WDR34-related AR WDR34 see 615633  
NOS 10-0160 Short-rib thoracic dysplasia (formerly asphyxiating thoracic dysplasia - Jeune syndrome), TCTEX1D2-related AR TCTEX1D2 617405  
NOS 10-0170 Short-rib thoracic dysplasia (formerly asphyxiating thoracic dysplasia - Jeune syndrome), WDR60-related AR WDR60 see 615503  
NOS 10-0180 Short-rib thoracic dysplasia (formerly asphyxiating thoracic dysplasia - Jeune syndrome), WDR19-related AR WDR19 614376 WDR19 is associated with MIM 614091, 614376, 614378, 615633 as well as with nephronopthisis (MIM 614377), Senior-Loken syndrome (MIM 616307) and Mainzer-Saldino syndrome (see below)
NOS 10-0190 Short-rib thoracic dysplasia (formerly asphyxiating thoracic dysplasia - Jeune syndrome), IFT140-related AR IFT140 266920  
NOS 10-0200 Short-rib thoracic dysplasia (formerly asphyxiating thoracic dysplasia - Jeune syndrome), TTC21B-related AR TTC21B 613819 Gene also known for nephronophthisis (MIM 613820)
NOS 10-0210 Short-rib thoracic dysplasia (formerly asphyxiating thoracic dysplasia - Jeune syndrome), IFT122-related AR IFT122 see 269860 Subsumed under SRPS (MIM 269860)
NOS 10-0220 Short-rib thoracic dysplasia (formerly asphyxiating thoracic dysplasia - Jeune syndrome), WDR35-related AR WDR35 614091  
NOS 10-0230 Short-rib thoracic dysplasia (formerly asphyxiating thoracic dysplasia - Jeune syndrome), IFT43-related AR IFT43 617866  
NOS 10-0240 Short-rib thoracic dysplasia (formerly asphyxiating thoracic dysplasia - Jeune syndrome), IFT80-related AR IFT80 611623  
NOS 10-0250 Short-rib thoracic dysplasia (formerly asphyxiating thoracic dysplasia - Jeune syndrome), IFT172-related AR IFT172 615630  
NOS 10-0260 Short-rib thoracic dysplasia (formerly asphyxiating thoracic dysplasia - Jeune syndrome), IFT81-related AR IFT81 617895  
NOS 10-0270 Short-rib thoracic dysplasia (formerly asphyxiating thoracic dysplasia - Jeune syndrome), IFT52-related AR IFT52 617102  
NOS 10-0280 Short-rib thoracic dysplasia (formerly asphyxiating thoracic dysplasia - Jeune syndrome), CFAP410-related AR CFAP410 602271  
NOS 10-0290 Short-rib thoracic dysplasia (formerly asphyxiating thoracic dysplasia - Jeune syndrome), CEP120-related AR CEP120 616300 Described in severe cases resembling SRPS; the CEP120 gene is also associated with Joubert syndrome (MIM 617761)
NOS 10-0300 Short-rib thoracic dysplasia (formerly asphyxiating thoracic dysplasia - Jeune syndrome), KIAA0586-related AR KIAA0586 616546 Gene also associated with Joubert syndrome (MIM 616490)
NOS 10-0310 Short-rib thoracic dysplasia (formerly asphyxiating thoracic dysplasia - Jeune syndrome), GRK2-related AR GRK2 see 109635  
NOS 10-0320 Short-rib thoracic dysplasia (formerly asphyxiating thoracic dysplasia - Jeune syndrome), TRAF3IP1-related AR TRAF3IP1 see 607380 TRAF3IP1 also known as IFT154
NOS 10-0330 Short-rib thoracic dysplasia (formerly asphyxiating thoracic dysplasia - Jeune syndrome), KIAA0753-related AR KIAA0753 619479 KIAA0753 variants also associated with orofaciodigital syndrome (MIM 617127) and with Joubert syndrome (MIM 619476)
NOS 10-0340 Axial spondylometaphyseal dysplasia, CFAP410-related AR CFAP410 602271  
NOS 10-0350 Axial spondylometaphyseal dysplasia, NEK1-related AR NEK1 see 252100  
NOS 10-0360 Chondroectodermal dysplasia (Ellis-van Creveld), EVC1-related AR EVC1 225500 See also Weyers acrofacial (acrodental) dysostosis (MIM 193530)
NOS 10-0370 Chondroectodermal dysplasia (Ellis-van Creveld), EVC2-related AR EVC2    
NOS 10-0380 Chondroectodermal dysplasia (Ellis-van Creveld), WDR35-related AR WDR35    
NOS 10-0390 Chondroectodermal dysplasia (Ellis-van Creveld), DYNC2LI1-related AR DYNC2LI1 see 617088  
NOS 10-0400 Chondroectodermal dysplasia (Ellis-van Creveld), GLI1-related AR GLI1 see 165220  
NOS 10-0410 Chondroectodermal dysplasia (Ellis-van Creveld), SMO-related AR SMO see A single case with compound heterozygosity missense variants reported
NOS 10-0420 Orofaciodigital syndrome type 4 (Mohr-Majewski), TCTN3-related AR TCTN3 258860  
NOS 10-0430 Orofaciodigital syndrome type 2 (Mohr syndrome), NEK1-related AR NEK1 252100  
NOS 10-0440 Cranioectodermal dysplasia (Levin-Sensenbrenner), IFT122-related AR IFT122 218330  
NOS 10-0450 Cranioectodermal dysplasia (Levin-Sensenbrenner), WDR35-related AR WDR35 613610  
NOS 10-0460 Cranioectodermal dysplasia (Levin-Sensenbrenner), WDR19-related AR WDR19 614378 WDR19 is associated with MIM 614091, 614376, 614378, 615633 as well as with nephronopthisis (MIM 614377), Senior-Loken syndrome (MIM 616307) and Mainzer-Saldino syndrome (see below)
NOS 10-0470 Cranioectodermal dysplasia (Levin-Sensenbrenner), IFT40-related AR IFT40 see 614620 see short rib thoracic dysplasia, IFT140-associated, above
NOS 10-0480 Cranioectodermal dysplasia (Levin-Sensenbrenner), IFT43-related AR IFT43 614009  
NOS 10-0490 Joubert syndrome with short-rib thoracic dysplasia, CSPP1-related AR CSPP1 615636 in OMIM as Joubert syndrome type 21; not all cases have thoracic dysplasia
NOS 10-0500 Atrial defects-polydactyly-multiple congenital malformation syndrome, PRKACA-related AD PRKACA 619142 OMIM created the name of Cardioacrofacial syndrome 1
NOS 10-0510 Atrial defects-polydactyly-multiple congenital malformation syndrome, PRKACB-related AD, MOS PRKACB 619143 OMIM created the name of Cardioacrofacial syndrome 2; one published patient later reclassified as Ellis-van Creveld syndrome
NOS 10-0520 Mainzer-Saldino syndrome, IFT140-related AR IFT140 266920 IFT140 also associated with isolated retinitis pigmentosa (MIM 617781)
NOS 10-0530 Mainzer-Saldino syndrome, IFT172-related AR IFT172   IFT172 also associated with Bardet-Biedl syndrome (MIM 619471) and isolated retinitis pigmentosa (616394)
NOS 10-0540 Mainzer-Saldino syndrome, WDR19-related AR WDR19 see 614376 WDR19 is also associated with MIM 614091, 614376, 614378, 615633 as well as with nephronopthisis (MIM 614377), and Senior-Loken syndrome (MIM 616307)
NOS 10-0550 Meckel syndrome, MKS1-related AR MKS1 249000  
NOS 10-0560 Meckel syndrome, TMEM216-related AR TMEM216 603194  
NOS 10-0570 Meckel syndrome, TMEM67-related AR TMEM67 607361  
NOS 10-0580 Meckel syndrome, CEP290-related AR CEP290 611134  
NOS 10-0590 Meckel syndrome, RPGRIP1L-related AR RPGRIP1L 611561  
NOS 10-0600 Meckel syndrome, CC2D2A-related AR CC2D2A 612284  
NOS 10-0610 Thoracolaryngopelvic dysplasia (Barnes) SP   187760 Dominant transmission reported, but diagnostic criteria not stringent. The existence of this entity is disputed.
  "Given the common genetic basis of several entries in this group and the absence (so far) of clear genotype-phenotype correlations, the distinction between chondroectodermal dysplasia, asphyxiating thoracic dystrophy (see below for name change), short rib-polydactyly syndromes and related conditions is historical and restricted to the clinical phenotypes. - We have followed MIM and used the term ""short-rib thoracic dysplasia"" instead of ""asphyxiating thoracic dysplasia"", to avoid the negative connotation and inaccuracy of ""asphyxiating"". - See also paternal UPD14 and Cerebro-costo-mandibular syndrome (rib gap syndrome), SNRPB-related, both in Group 36. - The Bardet-Biedl syndrome with its large phenotypic spectrum has not been included in spite of minor skeletal involvement, as the predominant clinical features are non-skeletal. "        
Group 11 Metaphyseal dysplasias        
NOS 11-0010 Metaphyseal dysplasia Schmid (MCS), COL10A1-related AD COL10A1 156500 Pathogenic variants are typically located in the C-terminal domain of the protein.
NOS 11-0020 Cartilage-hair hypoplasia (CHH; metaphyseal dysplasia, McKusick type), RMRP-related AR RMRP 250250 The phenotype of CHH is variable and includes MIM 607095-anauxetic dysplasia as well as MIM 250460-metaphyseal dysplasia without hypotrichosis
NOS 11-0030 Metaphyseal dysplasia with short stature (CHH-like), POP1-related AR POP1 617396 The clinical spectrum is variable. The denomination of anauxetic dysplasia 2 in MIM is confusing as anauxetic dysplasia is a variant of Cartilage-Hair Hypoplasia
NOS 11-0040 Metaphyseal dysplasia with short stature (CHH-like), NEPRO-related AR NEPRO 618853 Facial features and hypotrichosis reminiscent of Cartilage-Hair Hypoplasia
NOS 11-0050 Metaphyseal dysplasia with pancreatic insufficiency and cyclic neutropenia (Shwachman-Bodian-Diamond syndrome), SBDS-related AR SBDS 260400 See also severe spondylodysplastic dysplasia, Sedaghatian-like
NOS 11-0060 Metaphyseal dysplasia with pancreatic insufficiency and cyclic neutropenia (SBDS type 2), EFL1-related AR EFL1 617941  
NOS 11-0070 Metaphyseal dysplasia with pancreatic insufficiency and cyclic neutropenia, DNAJC21-related AR DNAJC21 617052 Known in OMIM as Bone Marrow Failure Syndrome 3; BMFS3
NOS 11-0080 Shwachman-Diamond like syndrome, SRP54-related AD SRP54 618752 Known in OMIM as Neutropenia, severe congenital, 8
NOS 11-0090 Metaphyseal dysplasia Spahr, MMP13-related AR MMP13 250400 Recessive, biallelic variants
NOS 11-0100 Metaphyseal anadysplasia, MMP13-related AD MMP13 602111 Dominant, monoallelic type; includes SEMD Missouri type
NOS 11-0110 Metaphyseal anadysplasia, MMP9-related AR MMP9 613073  
NOS 11-0120 Metaphyseal dysplasia with maxillary hypoplasia, RUNX2-related AD RUNX2 156510 Frequently associated with intragenic duplication of exons 3 to 5 or 3 to 6. See also Cleidocranial dysplasia, RUNX2-related (below; MIM 119600) , as well as non-syndromic midline craniosynostosis, RUNX2-related, below
  See Rhizomelic spondylo-metaphyseal dysplasia with remission, LBR-related (group 13), for another anadysplasia-like disorder        
Group 12 Spondylometaphyseal dysplasias (SMD)        
NOS 12-0010 Spondyloenchondrodysplasia with immune dysregulation (SPENCD), ACP5-related AR ACP5 607944  
NOS 12-0020 Odontochondrodysplasia (ODCD), TRIP11-related AR TRIP11 184260 See also Achondrogenesis, TRIP11-related (formerly type 1A)
NOS 12-0030 "Spondylometaphyseal dysplasia Sutcliffe (or ""corner fractures"" type), FN1-related" AD FN1 184255 Some cases are linked to COL2A1 but not the original family
NOS 12-0040 Spondylometaphyseal dysplasia with cone-rod dystrophy, PCYT1A-related AR PCYT1A 608940  
NOS 12-0050 Spondylometaphyseal dysplasia with corneal dystrophy, PLCB3-related AR PLCB3 618961  
NOS 12-0060 Chondrodysplasia-pseudohermaphroditism syndrome, HHAT-related AR HHAT 600092 Also known as Nivelon-Nivelon-Mabille syndrome (sic)
  See also SMD Kozlowski, TRPV4-related, Severe spondylometaphyseal dysplasia (Sedaghatian type), GPX4-related, as well as Axial spondylometaphyseal dysplasia, CFAP410-related and Axial spondylometaphyseal dysplasia, NEK1-related. In addition, there are many reports of sporadic patients with unclassified SMD variants.        
Group 13 Spondyloepi(meta)physeal dysplasias (SE(M)D)        
NOS 13-0010 SED tarda, X-linked (SED-XL), TRAPPC2-related XL TRAPPC2 313400  
NOS 13-0020 SED with diabetes mellitus (Wolcott-Rallison syndrome), EIF2AK3-related AR EIF2AK3 226980  
NOS 13-0030 Dyggve-Melchior-Clausen dysplasia, DYM-related AR DYM 223800  
NOS 13-0040 Smith-McCort dysplasia, DYM-related AR DYM 607326  
NOS 13-0050 Smith-McCort dysplasia, RAB33B-related AR RAB33B 615222  
NOS 13-0060 SEMD, BNIP1-related AR BNIP1 see 603291  
NOS 13-0070 SEMD, MATN3-related AR MATN3 608728 See also MATN3-related MED in group 9
NOS 13-0080 SEMD, DDRGK1-related (Shohat type) AR DDRGK1 602557  
NOS 13-0090 SEMD with leucodystrophy, AIFM1-related XL AIFM1 300232  
NOS 13-0100 SEMD, RSPRY1-related AR RSPRY1 616723  
NOS 13-0110 SEMD, TMEM165-related AR TMEM165 614727 Congenital disorder of glycosylation type IIk
NOS 13-0120 SEMD with microcephaly, retinal dystrophy and hearing loss, PISD-related (Liberfarb syndrome) AR PISD 618889 Phenotypically variable; in some affected individuals hearing and vision may be unaffected
NOS 13-0130 SEMD, UFSP2-related AD UFSP2 142669, 617974 Includes Familial hip dysplasia (Beukes)
NOS 13-0140 SEMD, short limb–abnormal calcification type , DDR2-related AR DDR2 271665 See also other dysplasias with stippling
NOS 13-0150 Immuno-osseous dysplasia, SMARCAL1-related (Schimke type) AR SMARCAL1 242900 Nephrotic syndrome is an important manifestation; see also EXTL3 deficiency, below
NOS 13-0160 SEMD with immune deficiency and intellectual disability, EXTL3-related AR EXTL3 617425 Also known as “Immunoskeletal dysplasia with developmental abnormalities”; includes Omenn syndrome with chondrodysplasia; see also SMARCAL1, above
NOS 13-0170 SEMD with immune deficiency, PGM3-related AR PGM3 615816 Known in OMIM as "immunodeficiency 23"
NOS 13-0180 SEMD with intellectual disability, NANS-related AR NANS 610442  
NOS 13-0190 SEMD with severe short stature, RPL13-related AD RPL13 618728  
NOS 13-0200 SEMD with elevated lysosomal enzymes, MBTPS1-related AR MBTPS1 618392 "only two unrelated individuals known so far; in OMIM as ""Kondo-Fu type""; possible role of lysosomal dysfunction in pathogenesis is unclear"
NOS 13-0210 Short stature, skeletal dysplasia, liver failure, optic nerve atrophy and Pelger-Huet anomaly, NBAS-related AR NBAS 616483 Combination of clinical features is variable; also known as infantile liver failure syndrome type 2
NOS 13-0220 Short stature, skeletal dysplasia and liver failure, RINT1-related AR RINT1 618641 Combination of clinical features is variable; also known as infantile liver failure syndrome type 3
NOS 13-0230 Spondylodysplastic Ehlers-Danlos syndrome (SDEDSS type 3), SLC39A13-related AR SLC39A13 612350 SLC39A13 / ZIP13 zinc transporter
NOS 13-0240 Spondylar and nasal alterations with striated metaphyses ( SPONASTRIME dysplasia), TONSL-related AR TONSL 271510 Possibly genetically heterogeneous
NOS 13-0250 Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and Leber congenital amaurosis (SHILCA) syndrome, NMNAT1-related AR NMNAT1 619260 Nonsyndromic Leber congenital amaurosis (LCA9; MIM 608553) is also caused by biallelic NMNAT1 variants
NOS 13-0260 Platyspondyly (brachyolmia) with amelogenesis imperfecta, LTBP3-related AR LTBP3 601216  
NOS 13-0270 Cerebral, ocular, dental, auricular, and skeletal anomalies (CODAS syndrome), LONP1-related AR LONP1 600373 Mitochondrial chaperonopathy
NOS 13-0280 Epiphyseal and vertebral dysplasia, microtia, flat nose plus associated malformation (EVEN-PLUS syndrome), HSPA9-related AR HSPA9 616854 Mitochondrial chaperonopathy
NOS 13-0290 Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia (CAGSSS syndrome), IARS2-related AR IARS2 616007  
NOS 13-0300 Steel syndrome, COL27A1-related AR COL27A1 615155  
NOS 13-0310 Rhizomelic spondylo-metaphyseal dysplasia with remission, LBR-related AR LBR 618019  
NOS 13-0320 Rhizomelic spondylo-epi-metaphyseal dysplasia, GNPNAT1-related AR GNPNAT1 619598  
  See also: Opsismodysplasia, INPPL1-related; Mucopolysaccharidosis type 4, GALNS-related (type 4A; Morquio disease), as well as Progressive pseudorheumatoid dysplasia (PPRD), WISP3-related. See also the non-genetic SEMD phenocopy, “Chondrodysplasia and growth failure following early hematopoietic stem cell transplantation”, doi: 10.1002/ajmg.a.62021,PMID: 33398909.        
Group 14 Severe spondylodysplastic dysplasias        
NOS 14-0010 Achondrogenesis, TRIP11-related (formerly type 1A) AR TRIP11 200600  
NOS 14-0020 Schneckenbecken dysplasia, SLC35D1-related AR SLC35D1 269250  note added after publication: clinically moderate, non-lethal variants have been reported 
NOS 14-0030 Severe spondylometaphyseal dysplasia (Sedaghatian type), GPX4-related AR GPX4 250220  
NOS 14-0040 Severe spondylometaphyseal dysplasia (SMD Sedaghatian-like), SBDS-related AR SBDS 260400  
NOS 14-0050 Opsismodysplasia, INPPL1-related AR INPPL1 258480 Includes lethal and milder cases
NOS 14-0060 Spondylometaphyseal dysplasia, PAM16- related AR PAM16 613320  
NOS 14-0070 Carbohydrate deficient glycoprotein syndrome, ALG9-related (ALG9-CDG; Gillessen-Kaesbach-Nishimura syndrome) AR ALG9 263210, 608776  
  See also Thanatophoric dysplasia, FGFR3-related; achondrogenesis and Torrance dysplasia, COL2A1-related; Fibrochondrogenesis, COL11A1-related; Achondrogenesis, SLC26A2-related; and Metatropic Dysplasia, TRPV4-related        
Group 15 Mesomelic and rhizo-mesomelic dysplasias        
NOS 15-0010 Dyschondrosteosis (Leri- Weill), SHOX-related Pseudo-AD SHOX 127300 Includes Reinhardt-Pfeiffer dysplasia, MIM 191400. Clinical continuum with Idiopathic short stature (MIM 300582)
NOS 15-0020 Mesomelic dysplasia (Langer type), SHOX-related Pseudo-AR SHOX 249700  
NOS 15-0030 Omodysplasia, recessive type, GPC6-related AR GPC6 258315  
NOS 15-0040 Omodysplasia, dominant type, FZD2-related AD FZD2 164745  
NOS 15-0050 Robinow syndrome, WNT5A-related AD WNT5A 180700  
NOS 15-0060 Robinow syndrome, DVL1-related AD DVL1 616331  
NOS 15-0070 Robinow syndrome, DVL3-related AD DVL3 616894  
NOS 15-0080 Robinow syndrome, FZD2-related AD FZD2    
NOS 15-0090 Robinow syndrome, recessive type, ROR2-related AR ROR2 268310 Includes previous COVESDEM (costo-vertebral segmentation defect with mesomelia); see also brachydactyly type B
NOS 15-0100 Robinow syndrome, recessive type, NXN-related AR NXN    
NOS 15-0110 Mesomelic dysplasia, HOXD-related (Kim or Korean type, Kantaputra type, Fryns type) AD HOXD 156232 Duplications at HOXD gene cluster locus; phenotypes is variable also within families
NOS 15-0120 Mesomelic dysplasia, Nievergelt type AD   163400  
NOS 15-0130 Mesomelic dysplasia, Kozlowski-Reardon type AR   249710  
NOS 15-0140 Mesomelic dysplasia with acral synostoses (Verloes-David-Pfeiffer type) AD SULF1, SLCO5A1 600383 Microdeletion syndrome involving two adjacent genes
NOS 15-0150 Mesomelic dysplasia (Savarirayan type), ID4-related AD ID4 605274 Microdeletions on 6p22.3
NOS 15-0160 Mesomelic dysplasia with digital anomalies and intellectual disability (KINSSHIP syndrome), AFF3-related AD AFF3 619297 In spite of the acronym, this condition is quite different from both Nievergelt and Savarirayan mesomelic dysplasias
NOS 15-0170 Oculo-skeletal syndrome with rhizomelic shortening, MAB21L2-related AD MAB21L2 615877 "In OMIM as ""Microphthalmia/Coloboma and skeletal dysplasia syndrome"". Skeletal involvement not in all individuals. Two brothers with biallelic variants (AR?) had ocular but no skeletal involvement."
  See also Tibial hemimelia-polysyndactyly-triphalangeal thumb, ZRS-related, also consider: mesomelic dysplasia, Camera type (MIM#611886), the status of which remains unconfirmed        
Group 16 Acromesomelic dysplasias        
NOS 16-0010 Acromesomelic dysplasia (type Maroteaux), NPR2-related AR NPR2 602875  
NOS 16-0020 Acromesomelic dysplasia, PRKG2-related AR PRKG2 619636, 619638 "Condition associated with biallelic loss of function variants. Three brothers form one family were found to have a spondylo-metaphyseal dysplasia phenotype (in OMIM as ""619638 - Spondylometaphyseal dysplasia, Pagnamenta type"". Needs to be confirmed)"
NOS 16-0030 Grebe dysplasia, GDF5-related AR GDF5 200700 Includes acromesomelic dysplasia Hunter-Thompson type and acromesomelic dysplasia with genital anomalies; see also see other GDF5-related disorders
NOS 16-0040 Grebe dysplasia, BMPR1B-related AR BMPR1B 609441  
NOS 16-0050 Fibular hypoplasia and complex brachydactyly (Du Pan), GDF5-related AR GDF5 228900 see also other GDF5-related disorders
NOS 16-0060 Fibular hypoplasia and complex brachydactyly (Du Pan), BMPR1B-related AR BMPR1B see 603248  
NOS 16-0070 Acromesomelic dysplasia, Osebold-Remondini type AD   112910  
Group 17 Acromelic dysplasias        
NOS 17-0010 Acrocapitofemoral dysplasia, IHH-related AR IHH 607778 See other conditions associated with the IHH gene in this table
NOS 17-0020 Geleophysic dysplasia, ADAMTSL2-related AR ADAMTSL2 231050  
NOS 17-0030 Geleophysic dysplasia, FBN1-related AD FBN1 614185  
NOS 17-0040 Geleophysic dysplasia, LTBP3-related AD LTBP3 617809  
NOS 17-0050 Acromicric dysplasia, FBN1-related AD FBN1 102370 Includes acrolaryngeal dysplasia, previously known as Fantasy Island dysplasia or Tattoo dysplasia, and Moore-Federman syndrome
NOS 17-0060 Acromicric dysplasia, LTBP3-related AD LTBP3 see 617809  
NOS 17-0070 Weill-Marchesani syndrome, dominant, FBN1-related AD FBN1 608328  
NOS 17-0080 Weill-Marchesani syndrome, ADAMTS10-related AR ADAMTS10 277600  
NOS 17-0090 Weill-Marchesani syndrome, ADAMTS17-related AR ADAMTS17 613195  
NOS 17-0100 Weill-Marchesani syndrome, LTBP2-related AR LTBP2 614819  
NOS 17-0110 Myhre dysplasia, SMAD4-related AD SMAD4 139210  
NOS 17-0120 Acrodysostosis, PDE4D-related AD PDE4D 614613 Includes acroscyphodysplasia (see PMID 30006632)
NOS 17-0130 Acrodysostosis, PRKAR1A-related AD PRKAR1A 101800  
NOS 17-0140 Angel-shaped phalango-epiphyseal dysplasia (ASPED) AD   105835 Possibly related or allelic to brachydactyly type C
NOS 17-0150 Albright hereditary osteodystrophy, GNAS-related AD GNAS 103580 Overlaps with progressive osseous heteroplasia
NOS 17-0160 Leri Pleonosteosis, linked to 8q22.1 AD 8q22.1 151200 Duplication at 8q22.1 encompassing GDF6 and SDC2
NOS 17-0170 SED with brachydactyly, MIR140-related AD MIR140 618618 Brachydactyly with cone-shaped epiphyses
  See also Cartilage-Hair Hypoplasia, RMRP-related, and the brachdydactyly groups, below (groups 18 and 19)        
Group 18 Brachydactylies (isolated)        
NOS 18-0010 Brachydactyly type A1 , IHH-related AD IHH 112500  
NOS 18-0020 Brachydactyly type A2, BMPR1B-related AD BMPR1B 112600  
NOS 18-0030 Brachydactyly type A2, BMP2-related AD BMP2 112600 Duplication of BMP2 enhancer
NOS 18-0040 Brachydactyly type A2, GDF5-related AD GDF5 112600 See also Grebe dysplasia, GDF5-related; Fibular hypoplasia and complex brachydactyly (Du Pan), GDF5-related; Brachydactyly type C, GDF5-related; and Multiple synostoses syndrome, GDF5-related
NOS 18-0050 Brachydactyly type B1, ROR2-related AD ROR2 113000 see also Robinow syndrome/COVESDEM
NOS 18-0060 Brachydactyly type B2, NOG-related AD NOG 611377  
NOS 18-0070 Brachydactyly type C, GDF5-related AD GDF5 113100 see other GDF5-related disorders
NOS 18-0080 Brachydactyly type D, HOXD13-related AD HOXD13 113200 Brachydactyly type D is often a component of Brachydactyly type E
NOS 18-0090 Brachydactyly type E, HOXD13-related AD HOXD13 113300  
NOS 18-0100 Brachydactyly with anonychia (Cooks syndrome), KCNJ2-related AD KCNJ2 106995 Duplications of SOX9/KCNJ2 regulatory region
NOS 18-0110 Preaxial brachydactyly, PAX3 type, linked to 2q35-36 AD 2q35-36   Deletions leading to disruption of TADs and abnormal expression of PAX3
  See also brachdactyly, PTHLH-related (below)        
Group 19 Brachydactylies as part of syndromes        
NOS 19-0010 Trichorhinophalangeal dysplasia types 1/3 AD TRPS1 190350, 190351 TRPS1 and 3 are a phenotypic spectrum
NOS 19-0020 Langer-Giedion syndrome (Trichorhinophalangeal dysplasia type 2) AD TRPS1, EXT1 150230 Microdeletion syndrome; see also multiple cartilaginous exostoses
NOS 19-0030 Catel-Manzke syndrome, TGDS-related AR TGDS 616145  
NOS 19-0040 Deafness, onychodystrophy, osteodystrophy, retardation and seizures (DOORS) syndrome AR TBC1D24 220500 Osteodystrophy and retardation are misnomers
NOS 19-0050 Brachydactyly - intellectual disability syndrome, HDAC4-related AD HDAC4 600430 The existence of this entity is questionable. HDAC4 variants alone may not be sufficient to produce either brachydactyly or intellectual disability. Some patients have microdeletions involving contiguous genes (2q37 deletion syndrome). HDAC4 variants have been associated with a developmental disorder (see MIM 619797)
NOS 19-0060 Hyperphosphatasia with intellectual disability, brachytelephalangy, and distinct face, PIGV-related AR PIGV 239300 Several other related defects of GPI synthesis known, most cases not known for skeletal changes; see e.g., MIM 610293 for a summary
NOS 19-0070 Brachydactyly-short stature-hypertension syndrome, PDE3A-related (Bilginturan syndrome) AD PDE3A 112410  
NOS 19-0080 Brachydactyly, obesity and intelelctual disability syndrome, PRMT7-related AR PRMT7 617157 Phenotype reminiscent of Albright Hereditary Ostedystrophy (AHO), GNAS-related (see above) but recessive. In OMIM as 617157 - Short stature, brachydactyly, intellectual developmental disability, and seizures "
NOS 19-0090 Microcephaly-oculo-digito-esophageal-duodenal syndrome, MYCN-related (Feingold syndrome) AD MYCN 164280  
NOS 19-0100 Hand-foot-genital syndrome, HOXA13-related AD HOXA13 140000 Includes Guttmacher syndrome
NOS 19-0110 Rubinstein-Taybi syndrome, CREBBP-related AD CREBBP 180849  
NOS 19-0120 Rubinstein-Taybi syndrome, EP300-related AD EP300 613684  
NOS 19-0130 Brachydactyly, Temtamy type, CHSY1-related AR CHSY1 605282  
NOS 19-0140 Hyperphalangism, characteristic facies, hallux valgus and bronchomalacia (Chitayat syndrome), ERF-related AD ERF 617180 typically a monoallelic Y89C substitution
NOS 19-0150 Hypoacusis with facial an digital anomalies (Keipert syndrome), GPC4-related XL GPC4 301026 brachytelephalangy is the most consistent skeletal signs
NOS 19-0160 Christian type brachydactyly AD   112450  
NOS 19-0170 Coffin-Siris syndrome, ARID1A-related AD ARID1A 614607  
NOS 19-0180 Coffin-Siris syndrome, ARIB1B-related AD ARID1B 135900 Variants in various components of the SWI/SNF complex have been reported in patients with a diagnosis of Coffin-Siris syndrome
NOS 19-0190 Coffin-Siris syndrome, SMARCB1-related AD SMARCB1 614608  
NOS 19-0200 Coffin-Siris syndrome, SMARCA4-related AD SMARCA4 614609  
NOS 19-0210 Coffin-Siris syndrome, SMARCE1-related AD SMARCE1 616938  
NOS 19-0220 Cardiomyopathy and brachydactyly, LMNA-related (Heart-hand syndrome type IV) AD LMNA 610140 in OMIM as Heart-Hand syndrome, Slovenian type
  See also CDP, X-linked recessive, ARSE-related (brachytelephalangic type; CDPX1)        
Group 20 Bent bones dysplasia group        
NOS 20-0010 Campomelic dysplasia (CD), SOX9-related AD SOX9 114290 Includes acampomelic campomelic dysplasia (ACD), mild campomelic dysplasia (MIM 602196); so-called Ischio-pubic-patellar dysplasia, as well as some cases of isolated Pierre-Robin sequence
NOS 20-0020 Stüve-Wiedemann syndrome, LIFR-related AR LIFR 601559 Includes former neonatal Schwartz-Jampel syndrome or SJS type 2
NOS 20-0030 Stüve-Wiedemann syndrome, IL6ST-related AR IL6ST 619751  
NOS 20-0040 Kyphomelic dysplasia with facial dysmorphism, KIF5B-related AD KIF5B 211350 "The name ""kyphomelic dysplasia"" has been applied to heterogeneous conditions"
NOS 20-0050 Bent bone dysplasia, FGFR2-related AD FGFR2 614592  
NOS 20-0060 Bent bone dysplasia, LAMA5-related AR LAMA5   Biallelic LAMA5 variants are associated with congenital or infantile nephrotic syndrome (MIM
  Bent bones is an unspecific finding, particularly in a prenatal setting, that can be observed in numerous other conditions, such as those with bone fragility; thus see the OI-bone fragility group (group 26) as well as Hypophosphatasia, ALPL-related.        
Group 21 Primordial dwarfism and slender bones group        
NOS 21-0010 3-M syndrome, CUL7-related AR CUL7 273750 Includes dolichospondylic dysplasia and Yakut short stature syndrome
NOS 21-0020 3-M syndrome, OBSL1-related AR OBSL1 612921  
NOS 21-0030 3-M syndrome , CCDC8-related AR CCDC8 614205  
NOS 21-0040 Sanjad-Sakati syndrome, recessive, TBCE-related AR TBCE 241410 "In OMIM as ""Kenny-Caffey type 1"" but does not correspond to the disorder described by Kenny and Caffey which is the dominant form"
NOS 21-0050 Kenny-Caffey syndrome, dominant, FAM111A-related AD FAM111A 127000  
NOS 21-0060 Osteocraniostenosis, FAM111A-related AD FAM111A 602361  
NOS 21-0070 Hallermann-Streiff syndrome     234100 Usuall sporadic; some cases have phenotypic overlap with Osteocraniostenosis, FAM111A-related
NOS 21-0080 Microcephalic osteodysplastic primordial dwarfism, RNU4ATAC-related AR RNU4ATAC 210710 Was MOPD 1/3; usually homozygous variants; includes Taybi-Linder cephaloskeletal dysplasia
NOS 21-0090 Roifman syndrome, RNU4ATAC-related AR RNU4ATAC 616651 See other RNU4ATAC-related condition in this table
NOS 21-0100 Microcephalic osteodysplastic primordial dwarfism, PCNT-related AR PCNT 210720 Was MOPD2, Majewski type
NOS 21-0110 Microcephalic osteodysplastic primordial dwarfism, ATR-related AR ATR 210600 In MIM as Seckel syndrome 1
NOS 21-0120 Microcephalic osteodysplastic primordial dwarfism, RBBP8-related AR RBBP8 606744 In MIM as Seckel syndrome 2. The RBBP8 gene is also associated with Jawad syndrome (microcephaly with intellectual disability and digital anomalies; MIM 251255)
NOS 21-0130 Microcephalic osteodysplastic primordial dwarfism, CEP152-related AR CEP152 613823 In MIM as Seckel syndrome 5. The CEP152 gene also causes primary microcephaly (MIM 614852)
NOS 21-0140 Microcephalic osteodysplastic primordial dwarfism, DNA2-related AR DNA2 615807 In MIM as Seckel syndrome 8. The DNA2 gene is also associated with autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions (MIM 615156)
NOS 21-0150 Microcephalic osteodysplastic primordial dwarfism, TRAIP-related AR TRAIP 616777 In MIM as Seckel syndrome 9
NOS 21-0160 Microcephalic osteodysplastic primordial dwarfism, NSMCE2-related AR NSMCE2 617253 In MIM as Seckel syndrome 10
NOS 21-0170 Microcephalic osteodysplastic primordial dwarfism, CENPE-related AR CENPE see 616051 In MIM as autosomal recessive primary microcephaly
NOS 21-0180 Microcephalic osteodysplastic primordial dwarfism, CRIPT-related AR CRIPT 615789 In MIM as short stature with microcephaly and distinctive facies
NOS 21-0190 Microcephalic osteodysplastic primordial dwarfism, XRCC4-related AR XRCC4 616541 In MIM as short stature, microcephaly and endocrine dysfunction
NOS 21-0200 Microcephalic osteodysplastic primordial dwarfism, or microcephaly-short stature-micromelia-limb abnormalities, DONSON-related AR DONSON 251230, 617604 Milder affected patients may fall into the Meier-Gorlin syndrome spectrum
NOS 21-0210 IMAGE syndrome (intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia, and genital anomalies) AD CDKN1C 614732 Gene also known to cause Beckwith-Wiedemann syndrome (MIM 130650). IMAGE-associated variants are clustered in the PCNA-binding region and are maternally transmitted (gene is imprinted with preferential maternal expression)
NOS 21-0220 IMAGE syndrome / FILS syndrome, POLE-related AR POLE 618336, 615139 The phenotype is variable and may include immune deficiency (OMIM 615139)
NOS 21-0230 Saul-Wilson syndrome, COG4-related AD COG4 618150  
NOS 21-0240 Short stature, facial dysmorphism, skeletal and dental anomalies syndrome, SCUBE3-related AR SCUBE3 619184 "in OMIM as ""short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2"" "
NOS 21-0250 Ear-patella-primordial short stature syndrome (Meier-Gorlin), ORC4-related AR ORC1 224690  
NOS 21-0260 Ear-patella-primordial short stature syndrome (Meier-Gorlin), ORC4-related AR ORC4 613800  
NOS 21-0270 Ear-patella-primordial short stature syndrome (Meier-Gorlin), ORC6-related AR ORC6 613803  
NOS 21-0280 Ear-patella-primordial short stature syndrome (Meier-Gorlin), CDT1-related AR CDT1 605525  
NOS 21-0290 Ear-patella-primordial short stature syndrome (Meier-Gorlin), CDC6-related AR CDC6 613805 A single case reported so far
NOS 21-0300 Ear-patella-primordial short stature syndrome (Meier-Gorlin), CDC45-related AR CDC45 603465  
NOS 21-0310 Ear-patella-primordial short stature syndrome (Meier-Gorlin), MCM3-related AR MCM3 see 602693  
NOS 21-0320 Ear-patella-primordial short stature syndrome (Meier-Gorlin), MCM5-related AR MCM5 602696  
NOS 21-0330 Ear-patella-primordial short stature syndrome (Meier-Gorlin), MCM7-related AR MCM7 see 600592  
NOS 21-0340 Ear-patella-primordial short stature syndrome (Meier-Gorlin), GMNN-related AD GMNN 613804  
NOS 21-0350 Ear-patella-primordial short stature syndrome (Meier-Gorlin) with craniosynostosis, GINS2-related AD GINS2 see 610609 A single case reported so far
Group 22 Lysosomal Storage Diseases with Skeletal Involvement        
NOS 22-0010 Mucopolysaccharidosis type 1, IDUA-related AR IDUA 607014, 607015, 607016 was Type 1H-Hurler syndrome, type 1S-Scheie syndrome
NOS 22-0020 Mucopolysaccharidosis type 2, IDS-related XL IDS 309900 known as Hunter syndrome
NOS 22-0030 Mucopolysaccharidosis type 3, SGSH-related (type 3A) AR SGSH 252900 known as Sanfilippo A syndrome
NOS 22-0040 Mucopolysaccharidosis type 3, NAGLU-related (type 3B) AR NAGLU 252920 known as Sanfilippo B syndrome
NOS 22-0050 Mucopolysaccharidosis type 3, HSGNAT-related (type 3C) AR HSGNAT 252930 known as Sanfilippo C syndrome
NOS 22-0060 Mucopolysaccharidosis type 3, GNS-related (type 3D) AR GNS 252940 known as Sanfilippo D syndrome
NOS 22-0070 Mucopolysaccharidosis type 4, GALNS-related (type 4A) AR GALNS 253000 known as Morquio A syndrome
NOS 22-0080 Mucopolysaccharidosis type 4, GLB1-related (type 4B) AR GLB1 253010 known as Morquio B syndrome
NOS 22-0090 Mucopolysaccharidosis type 6, ARSB-related AR ARSB 253200 known as Maroteaux-Lamy syndrome
NOS 22-0100 Mucopolysaccharidosis type 7, GUSB-related AR GUSB 253220 known as Sly syndrome
NOS 22-0110 Mucopolysaccharidosis type 10, ARSK-related AR ARSK 610011  
NOS 22-0120 Mucopolysaccharidosis-plus syndrome, VPS33A-related AR VPS33A 617303  
NOS 22-0130 Fucosidosis, FUCA-related AR FUCA 230000  
NOS 22-0140 alpha-Mannosidosis, MAN2B1-related AR MAN2B1 248500  
NOS 22-0150 beta-Mannosidosis, MANBA-related AR MANBA 248510  
NOS 22-0160 Aspartylglucosaminuria, AGA-related AR AGA 208400  
NOS 22-0170 Gangliosidosis GM1, GLB1-related AR GLB1 230500 Several forms, see also mucopolysaccharidosis type 4B (Morquio B) above
NOS 22-0180 Sialidosis, NEU1-related AR NEU1 256550 Several forms of different severity
NOS 22-0190 Galactosialidosis, PPGB-related AR   PPGB 256540 Several forms of different severity
NOS 22-0200 Sialic acid storage disease (SIASD), SLC17A5-related AR SLC17A5 269920  
NOS 22-0210 Multiple sulfatase deficiency, SUMF-related AR SUMF1 272200  
NOS 22-0220 Mucolipidosis II  (I-cell disease), GNPTAB-related AR GNPTAB 252500 the old entity of Pacman dysplasia is the prenatal manifestation of mucolipidosis II with hyperparathyroidism
NOS 22-0230 Mucolipidosis III (Pseudo-Hurler polydystrophy), GNPTAB-related AR GNPTAB 252600  
NOS 22-0240 Mucolipidosis III (Pseudo-Hurler polydystrophy), GNPTG-related AR GNPTG 252605 in general somewhat milder phenotype than the GNPTAB-related form
NOS 22-0250 Mucolipidosis, GCAF-related AR CGAF 619345 "The gene was previously known as TMEM251 and encodes for a ""GNTAP cleavage and activity factor"" (see GNTAP, above)"
NOS 22-0260 Gaucher disease, GBA-related AR GBA 230800 "Long-standing Gaucher disease can have bone changes that are different from the ""dysostosis multiplex"" pattern seen in other lysosomal diseases in this group "
  See also familial arthritis with hyaluronidase deficiency ("mucopolysaccharidosis type 9"), HYAL1-related; SEMD with elevated lysosomal enzymes, MBTPS1-related, above; as well as Farber disease, ASAH1-related, below.         
Group 23 Chondrodysplasia punctata (CDP) group        
NOS 23-0010 CDP, X-linked recessive, ARSE-related (brachytelephalangic type; CDPX1) XL ARSE 302950  
NOS 23-0020 CDP, X-linked dominant, EBP-related (Conradi-Hünermann type; CDPX2) XL EBP 302960  
NOS 23-0030 Congenital hemidysplasia, ichthyosis, limb defects (CHILD) syndrome, NSDHL-related XL NSDHL 308050  
NOS 23-0040 Keutel syndrome, MGP-related AR MGP 245150  
NOS 23-0050 Greenberg dysplasia, LBR-related AR LBR 215140 Includes hydrops-ectopic calcification-moth-eaten appearance dysplasia (HEM) and dappled diaphyseal dysplasia; possibly includes also the ultrarare entity designed as Astley-Kendall dysplasia. See also the non-lethal condition associated with LBR, above
NOS 23-0060 Rhizomelic CDP, PEX7-related AR PEX7 215100  
NOS 23-0070 Rhizomelic CDP, DHPAT-related AR DHPAT 222765  
NOS 23-0080 Rhizomelic CDP, AGP5-related AR AGPS 600121  
NOS 23-0090 Rhizomelic CDP, FAR1-related AR FAR1 616154 "MIM calls this entity ""peroxisomal fatty acyl-CoA reductase 1 disorder""; skeletal phenotype milder than other rCDP forms. The FAR1 gene is also associated with cataracts, spastic paraparesis, and speech delay (MIM 619338, AD) "
NOS 23-0100 Rhizomelic CDP, PEX5-related AR PEX5 616716  
NOS 23-0110 CDP tibial-metacarpal type     118651 Some cases possibly caused by maternal auto-immune disease
  Note: stippling can occur in several syndromes such as Zellweger cerebro-hepato-renal syndrome (see OMIM for the many genetic types), Smith-Lemli-Opitz (MIM 270400), in Mucolipidosis II  (I-cell disease), GNPTAB-related, mild forms of Raine dysplasia, FAM20C-related, and others. See also SEMD short limb-abnormal calcification type, DDR2-related. Stippling in the fetus is also observed as a consequence of maternal auto-immune disease, sometimes presenting as "CDP tibial-metacarpal type".        
Group 24 Osteopetrosis and related osteoclast disorders        
NOS 24-0010 Osteopetrosis, neonatal or infantile form, TCIRG1-related AR TCIRG1 259700  
NOS 24-0020 Osteopetrosis, neonatal or infantile form, CLCN7-related AR CLCN7 611490  
NOS 24-0030 Osteopetrosis, neonatal or infantile form, SNX10-related AR SNX10 615085  
NOS 24-0040 Osteopetrosis, infantile form, with nervous system involvement, OSTM1-related AR OSTM1 259720 Includes former osteopetrosis with infantile neuraxonal dysplasia (MIM 600329)
NOS 24-0050 Osteopetrosis, infantile form, osteoclast-poor with immunoglobulin deficiency, TNFRSF11A-related AR TNFRSF11A 612301 See also below in this group, Dysosteosclerosis, TNFRSF11A-related, as well as MIM 602080-familial expansile osteolysis
NOS 24-0060 Osteopetrosis, intermediate form, TCIRG1-related AR TCIRG1 259700  
NOS 24-0070 Osteopetrosis, intermediate form, TNFSF11-related AR TNFSF11 259710  
NOS 24-0080 Osteopetrosis, intermediate form, PLEKHM-related AR PLEKHM1 611497  
NOS 24-0090 Osteopetrosis, intermediate form, CLCN7-related AR CLCN7 259710  
NOS 24-0100 Osteopetrosis, late-onset, dominant form, CLCN7-related AD CLCN7 166600  
NOS 24-0110 Osteopetrosis with renal tubular acidosis, CA2-related AR CA2 259730  
NOS 24-0120 Osteopetrosis with ectodermal dysplasia and immune defect (OLEDAID), IKBKG-related XL IKBKG 300301  
NOS 24-0130 Osteopetrosis, moderate form, SLC4A2-related AR SLC4A2 see 109280 a single adult patient reported, phenotype may evolve
NOS 24-0140 Osteopetrosis, moderate form with defective leucocyte adhesion, FERMT3-related AR FERMT3 612840 In OMIM as Leucocyte Adhesion Deficiency 3 (LAD3) - MIM 612840
NOS 24-0150 Osteopetrosis, moderate form with defective leucocyte adhesion, RASGRP2-related AR RASGRP2 615888 OMIM only includes Bleeding Disorder, Platelet type, 18 (MIM 615888) for this gene
NOS 24-0160 Osteosclerotic metaphyseal dysplasia, LRKK1-related AR LRRK1 615198 The name may be misleading as the condition is best described as a form of osteopetrosis
NOS 24-0170 Pyknodysostosis, CTSK-related AR CTSK 265800 In some individuals, the features of pyknodyostosis are absent and the disorder mimics osteopetrosis
NOS 24-0180 Dysosteosclerosis, SLC29A3-related AR SLC29A3 224300  
NOS 24-0190 Dysosteosclerosis, TNFRSF11A-related AR TNFRSF11A 224300 This entity probably forms a spectrum with Osteopetrosis, intermediate form, TNFSF11-related (above)
NOS 24-0200 Dysosteosclerosis with degenerative encephalopathy and brain malformation, CSF1R-related AR CSF1R 618476 "In OMIM as ""Brain abnormalities, neurodegeneration and dysosteosclerosis (BANDDOS)""; gene also associated with MIM 221820 -Leukoencephalopathy with spheroids."
  Note: osteomesopyknosis (MIM 166450) may represent a form of osteopetrosis. In a pattern similar to the ciliary disorders, the phenotypes from individual loci are variable and may overlap with those of other loci.        
Group 25 Osteosclerotic disorders        
NOS 25-0010 Desmosterolosis, DHCR4-related AR DHCR24 602398 See also other sterol-metabolism related conditions
NOS 25-0020 Raine dysplasia, FAM20C-related AR FAM20C 259775 Variable severity, many cases are perinatal severe, some cases show survival to adulthood; then often combined with FGF23 elevation and hypophosphatemic rickets
NOS 25-0030 Caffey disease, COL1A1-related AD COL1A1 114000 Rare specific variants in COL1A1. See also osteogenesis imperfecta related to collagen 1 genes.
NOS 25-0040 Caffey dysplasia (severe variants with prenatal onset) AR?   114000  
NOS 25-0050 Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type       A few sporadic cases known, phenotype consistent, molecular basis unknown
NOS 25-0060 Dysplastic cortical hyperostosis, Al-Gazali type     601356 "Only a few cases known. Im OMIM as ""Lethal short-limb skeletal dysplasia, Al Gazali type"" . Not to be confused with ""Al-Gazali syndrome"", a rare variant of B3GALT6 disorders (see above)"
NOS 25-0070 Osteopoikilosis, LEMD3-related AD LEMD3 166700 Includes Buschke-Ollendorff syndrome (same OMIM entry)
NOS 25-0080 Melorheostosis with osteopoikilosis, LEMD3-related AD LEMD3 166700 Includes mixed sclerosing bone dysplasia
NOS 25-0090 Melorheostosis, MAP2K1-related SP MAP2K1 155950 Possibly locus heterogeneity
NOS 25-0100 Osteopathia striata with cranial sclerosis (OSCS), AMER1-related XL AMER1 300373  
NOS 25-0110 Pyle disease, SFRP4-related AR SFRP4 265900 "The name ""metaphyseal dysplasia, Pyle type"" is misleading (no growth plate dysplasia) and should be avoided"
NOS 25-0120 Craniometaphyseal dysplasia, ANKH-related AD ANKH 123000 Dominant type
NOS 25-0130 Craniometaphyseal dysplasia, GJA1-related AR GJA1 218400 Recessive type
NOS 25-0140 Diaphyseal dysplasia Camurati-Engelmann, TGFB1-related AD TGFB1 131300 Gain-of-function variants
NOS 25-0150 Hyperostosis-Hyperphosphatemia syndrome, GALNT3-related AR GALNT3 211900 Formerly hyperphosphatemic tumoral calcinosis type 1
NOS 25-0160 Hyperostosis-Hyperphosphatemia syndrome, FGF23-related AR FGF23 617993 Formerly hyperphosphatemic tumoral calcinosis type 2
NOS 25-0170 Hyperostosis-Hyperphosphatemia syndrome, KL-relathed AR KL 617994 Formerly hyperphosphatemic tumoral calcinosis type 3
NOS 25-0180 Cerebellar hypoplasia-endosteal sclerosis, POLR3B-related AR POLR3B 213002  
NOS 25-0190 Hematodiaphyseal dysplasia Ghosal, TBXAS1-related AR TBXAS1 231095  
NOS 25-0200 Hypertrophic osteoarthropathy, HPGD-related AR HPGD 259100 Includes cranio-osteoarthropathy, some cases of recessive pachydermoperiostosis, as well as recessively inherited isolated digital clubbing (MIM 119900)
NOS 25-0210 Hypertrophic osteoarthropathy, SLCO2A1-related AD, AR SLCO2A1 614441  
NOS 25-0220 Oculodentoosseous dysplasia (ODOD), GJA1-related, dominant, mild type AD GJA1 164200  
NOS 25-0230 Oculodentoosseous dysplasia (ODOD) GJA1-related, recessive, severe type AR GJA1 257850 Possibly homozygous form of mild ODOD
NOS 25-0240 Osteoectasia with hyperphosphatasia (juvenile Paget disease), OPG-related AR OPG 239000  
NOS 25-0250 Osteosclerosis, LRP5-related AD LRP5 144750, 607634 Includes previous AD osteopetrosis type 1 (OPTA1)
NOS 25-0260 Sclerosteosis, SOST-related AR SOST 269500 see also sclerosteosis, SOST-related, below
NOS 25-0270 Sclerosteosis, LRP4-related AR LRP4 614305  
NOS 25-0280 Endosteal hyperostosis, van Buchem type, SOST-related AR SOST 239100 Specific 52 kb deletion downstream of SOST
NOS 25-0290 Endosteal hyperostosis, Worth type AD LRP5 144750  
NOS 25-0300 Craniodiaphyseal dysplasia, SOST-related AD SOST 122860 Presumed dominant negative variant
NOS 25-0310 Craniodiaphyseal dysplasia, SP7-related AR SP7 see 606633 one family reported; SP7 variants also associated with Osteogenesis imperfecta (MIM 613849), see below
NOS 25-0320 Trichodentoosseous dysplasia, DLX3-related AD DLX3 190320  
NOS 25-0330 Diaphyseal medullary stenosis with malignant fibrous histiocytoma, MTAP-related AD MTAP 112250 Also known as Hardcastle disease
NOS 25-0340 Craniotubular dysplasia, TMEM53-related AR TMEM53 619727  
NOS 25-0350 Craniometadiaphyseal dysplasia, Wormian bone type AR   269300  
NOS 25-0360 Lenz-Majewski hyperostotic dysplasia, PTDSS1-related AD PTDSS1 151050  
NOS 25-0370 Osteochondrodysplasia with hypertrichosis (Cantu syndrome), ABCC9-related AD ABCC9 239850  
NOS 25-0380 Familial Paget disease of bone, SQSTM1-related AD SQSTM1 167250  
NOS 25-0390 Inclusion body myopathy, Paget disease of bone and frontotemporal dementia AD VCP 167320 Monoallelic variants in the VCP gene are also associated with MIM 616687-Charcot-Marie-Tooth disease 2Y, and with MIM 613954-Frontotemporal dementia and/or amyotrophic lateral sclerosis 6.
NOS 25-0400 Endosteal hyperostosis, oligodontia, short stature, facial dysmorphism and intellectual disability, POLR3GL-related AR POLR3GL 619234 Phenotypic elements will need to be evaluated more precisely; one patient reported as Wiedemann-Rautenstrauch-syndrome-like
NOS 25-0410 Metaphyseal dysplasia, Braun-Tinschert type AD   605946  
NOS 25-0420 Trichothiodystrophy with axial osteosclerosis AR     A subset of patients with trichothiodystrophy have marked osteosclerosis but have not been molecularly characterized so far
  See also the chondrodysplasia punctata group (group 23); as well as familial expansile osteolysis, TNFRSF11A-related (below); and Trichothiodystrophy with central osteosclerosis (PMID 15148554)        
Group 26 Osteogenesis Imperfecta and bone fragility group        
NOS 26-0010 Osteogenesis imperfecta, non-deforming (Sillence type 1), COL1A1-related AD COL1A1 166200 Usually with persistently blue sclerae, can have signs of connective tissue weakness (in MIM as OI type I)
NOS 26-0020 Osteogenesis imperfecta, non-deforming (Sillence type 1), COL1A2-related AD COL1A2 166200 Usually with persistently blue sclerae, can have signs of connective tissue weakness (in MIM as OI type I)
NOS 26-0030 Osteogenesis imperfecta, severe perinatal form (Sillence type 2) COL1A1-related AD COL1A1 166210 Formerly "perinatal lethal"; in OMIM as OI type II
NOS 26-0040 Osteogenesis imperfecta, severe perinatal form (Sillence type 2), COL1A2-related AD COL1A2 166210 Formerly "perinatal lethal"; in OMIM as OI type II
NOS 26-0050 Osteogenesis imperfecta, severe perinatal form (Sillence type 2), CRTAP-related AR CRTAP 610682 Formerly "perinatal lethal"; in OMIM as OI type VII
NOS 26-0060 Osteogenesis imperfecta, severe perinatal form (Sillence type 2), P3H1-related AR P3H1 610915 Formerly "perinatal lethal"; in OMIM as OI type VIII
NOS 26-0070 Osteogenesis imperfecta, severe perinatal form (Sillence type 2), PPIB-related AR PPIB 259440 Formerly "perinatal lethal"; in OMIM as OI type IX
NOS 26-0080 Osteogenesis imperfecta, progressively deforming (Sillence type 3), COL1A1-related AD COL1A1 259420 In OMIM as OI type III
NOS 26-0090 Osteogenesis imperfecta, progressively deforming (Sillence type 3), COL1A2-related AD COL1A2 259420 In OMIM as OI type III
NOS 26-0100 Osteogenesis imperfecta, progressively deforming (Sillence type 3), IFITM5-related AD IFITM5 610967 in OMIM OI type III; phenotype is distinct but is some instances can mimin OI type III
NOS 26-0110 Osteogenesis imperfecta, progressively deforming (Sillence type 3), SERPINF1-related AR SERPINF1 613982 In OMIM as OI type VI
NOS 26-0120 Osteogenesis imperfecta, progressively deforming (Sillence type 3), CRTAP-related AR CRTAP 610682 In OMIM OI type VII
NOS 26-0130 Osteogenesis imperfecta, progressively deforming (Sillence type 3), P3H1-related AR P3H1 610915 In OMIM OI type VIII
NOS 26-0140 Osteogenesis imperfecta, progressively deforming (Sillence type 3), PPIB-related AR PPIB see 259440 In OMIM OI type IX
NOS 26-0150 Osteogenesis imperfecta, progressively deforming (Sillence type 3), SERPINH1-related AR SERPINH1 613848 In OMIM OI type X
NOS 26-0160 Osteogenesis imperfecta, progressively deforming (Sillence type 3), FKBP10-related AR FKBP10 610968 In OMIM OI type XI
NOS 26-0170 Osteogenesis imperfecta, progressively deforming (Sillence type 3), TMEM38B-related AR TMEM38B 615066 In OMIM OI type XIV
NOS 26-0180 Osteogenesis imperfecta, progressively deforming (Sillence type 3), BMP1-related AR BMP1 614856 In OMIM OI type XIII
NOS 26-0190 Osteogenesis imperfecta, progressively deforming (Sillence type 3), WNT1-related AR WNT1 615220 In OMIM as OI type XV. Biallelic variants; monoallelic variants may result in AD osteoporosis.
NOS 26-0200 Osteogenesis imperfecta, progressively deforming (Sillence type 3), CREB3L1-related AR CREB3L1 616229 In OMIM as OI type XVI. Has severe joint laxity and scoliosis, Ehlers-Danlos-like
NOS 26-0210 Osteogenesis imperfecta, progressively deforming (Sillence type 3), SPARC-related AR SPARC 616507 In OMIM as OI type XVII
NOS 26-0220 Osteogenesis imperfecta, progressively deforming (Sillence type 3), TENT5A-related AR TENT5A 617952 In OMIM as OI type XVIII
NOS 26-0230 Osteogenesis imperfecta, progressively deforming (Sillence type 3), MBTPS2-related XLR MBTPS2 301014 In OMIM as OI type XIX
NOS 26-0240 Osteogenesis imperfecta, progressively deforming (Sillence type 3), MESD-related AR MESD 618644 In OMIM as OI type XX
NOS 26-0250 Osteogenesis imperfecta, progressively deforming (Sillence type 3) with neurodevelopmental features, KDELR2-related AR KDELR2 619131 In OMIM as OI type XXI. Frequency of neurodevelopmental delay not clear yet.
NOS 26-0260 Osteogenesis imperfecta, progressively deforming (Sillence type 3), CCD134-related AR CCD134 619795 In OMIM as OI typeXXII
NOS 26-0270 Osteogenesis imperfecta, moderate form (Sillence type 4), COL1A1-related AD COL1A1 166220 In OMIM as OI type IV
NOS 26-0280 Osteogenesis imperfecta, moderate form (Sillence type 4), COL1A2-related AD COL1A2 166220 In OMIM as OI type IV
NOS 26-0290 Osteogenesis imperfecta, moderate form (Sillence type 4), WNT1-related AR WNT1 see 166220 In OMIM as OI type XV
NOS 26-0300 Osteogenesis imperfecta, moderate form (Sillence type 4), IFITM5-related AD IFITM5 166220 in OMIM OI type IV
NOS 26-0310 Osteogenesis imperfecta, moderate form (Sillence type 4), CRTAP-related AR CRTAP see 610682 In OMIM as OI type VII
NOS 26-0320 Osteogenesis imperfecta, moderate form (Sillence type 4), PPIB-related AD PPIB see 259440 In OMIM as OI type IX
NOS 26-0330 Osteogenesis imperfecta, moderate form (Sillence type 4), FKBP10-related AR FKBP10 see 610968 In OMIM as OI type XI
NOS 26-0340 Osteogenesis imperfecta, moderate form (Sillence type 4), SP7-related AR SP7 613849 In OMIM as OI type XII
NOS 26-0350 Osteogenesis imperfecta with calcification of interosseous membranes and/or hypertrophic callus (OI type 5), IFITM5-related AD IFITM5 610967 When calcification of intraosseous membranes or hypertrophic callus are not observed, may mimic progressively deforming or moderate OI (Sillence types 3 and 4)
NOS 26-0360 Osteogenesis imperfecta with craniosynostosis (Cole-Carpenter syndrome), P4HB-related AD P4HB 112240 Craniosynostosis is not well documented in this condition in spite of the name.
NOS 26-0370 Osteogenesis imperfecta with craniosynostosis (Cole-Carpenter syndrome), SEC24D-related AR SEC24D 616294 Was Cole-Carpenter syndrome 2. Possibly misnomer, as most patients do not have craniosynostosis but rather large fontanels.
NOS 26-0380 Osteoporosis – X-linked form, PLS3-related XL PLS3 300910  
NOS 26-0390 Osteoporosis – X-linked form , MBPTS2-related XL MBTPS2 301014 In OMIM as OI type XIX; gene also associated with MIM 300918, MIM308205, MIM 308800
NOS 26-0400 Osteoporosis – dominant form, WNT1-related AD WNT1 615220 OMIM OI type XV
NOS 26-0410 Osteoporosis – AD form, LRP5-related AD LRP5 166710, 601884 Monoallelic variants; biallelic variants result in MIM 259770 osteoporosis-pseudoglioma (see below); this gene is also associated with hyperostotic forms (see below) as well as with MIM 601813 - exudative vitreoretinopathy, as well as MIM 617875 - polycystic liver disease
NOS 26-0420 Osteoporosis -AD form, ARHGAP25-related AD ARHGAP25 see 610587  
NOS 26-0430 Bruck syndrome type 1 (BS1), FKBP10-related AR FKBP10 259450 See autosomal recessive OI, above; intrafamilial variability between OI type 3, arthrogryposis and Bruck syndrome 1 is documented
NOS 26-0440 Bruck syndrome type 2 (BS2), PLOD2-related AR PLOD2 609220  
NOS 26-0450 Osteoporosis-pseudoglioma syndrome, LRP5-related AR LRP5 259770 When eye involvement is absent, may mimic progressively deforming or moderate OI (Sillence types 3 and 4)
NOS 26-0460 "Bone fragility with calvarial ""doughnut"" lesions, SGSM2-related " AD SGMS2 126550 Overlap with a spondylo-metaphyseal dysplasia phenotype
NOS 26-0470 Spondylo-ocular dysplasia, XYLT2-related AR XYLT2 605822  
NOS 26-0480 Gnathodiaphyseal dysplasia, ANO5-related AD ANO5 166260 Gene also associated with OMIM 613319-Miyoshi muscular dystrophy 3, and OMIM 611307-recessive limb-girdle muscular dystrophy 12
NOS 26-0490 Osteoporosis with developmental delay and microcephaly, COPB2-related AD COPB2 619884 Clinically variable, microcephaly in some cases only
NOS 26-0500 Geroderma osteodysplasticum, GORAB-related AR GORAB 231070  
NOS 26-0510 Cutis laxa, PYCR1-related AR PYCR1 612940 Autosomal recessive form, type 2B (ARCL2B). Skeletal features overlapping with progeroid EDS and geroderma osteodysplasticum
NOS 26-0520 Cutis laxa, ATP6V0A2-related AR ATP6V0A2 278250, 219200 Autosomal recessive form, type 2A (ARCL2A); wrinkly skin syndrome. Skeletal features overlapping with progeroid EDS and geroderma osteodysplasticum
NOS 26-0530 Wiedemann-Rautenstrauch syndrome, POLR3A-related AR POLR3A 264090 Gene also associated with MIM 607694- Leukodystrophy, hypomyelinating, with or without oligodontia and/or hypogonadotropic hypogonadism
NOS 26-0540 Singleton-Merten dysplasia, IFIH-related AD IFIH1 182250 Gene also associated with MIM 615846-Aicardi-Goutieres syndrome 7, and OMIM 619773-Immunodeficiency 95
NOS 26-0550 Singleton-Merten dysplasia, DDX58-related AD DDX58 616298  
  Note: some of the recently discovered OI variants are still limited to very small numbers of patients; thus, the association with OI "Sillence type 3" is tentative and may be too restrictive as other phenotypes might emerge in the future. See also: Short stature, skeletal dysplasia, liver failure, optic nerve atrophy and Pelger-Huet anomaly, NBAS-related, above (Group 13); as well as all the Loeys-Dietz syndrome variants and the Snyder-Robinson syndrome, SMS-related (Group 31).        
Group 27 Disorders of bone mineralisation        
NOS 27-0010 Hypophosphatasia, ALPL-related, recessive (biallelic) forms AR ALPL 241500 Includes perinatal, infantile and juvenile forms
NOS 27-0020 Hypophosphatasia, ALPL-related, dominant (monoallelic) forms AD ALPL 146300 Includes juvenile and adult forms as well as odontohypophosphatasia
NOS 27-0030 Hypophosphatemic rickets, PHEX-related XL PHEX 307800 X-linked, most common genetic form of hypophosphatemic rickets
NOS 27-0040 Hypophosphatemic rickets, FGF23-related AD FGF23 193100 Autosomal dominant
NOS 27-0050 Hypophosphatemic rickets, DMP1-related AR DMP1 241520 Autosomal recessive (ARHR1)
NOS 27-0060 Hypophosphatemic rickets, ENPP1-related AR ENPP1 613312 Autosomal recessive (ARHR2)
NOS 27-0070 Hypophosphatemic rickets, SGK3-related AD SGK3 see 607591 Autosomal dominant
NOS 27-0080 Hypophosphatemic rickets with hypercalciuria, CLCN5-related XL CLCN5 300554 X-linked; part of Dent’s disease complex (progressive proximal renal tubulopathy with hypercalciuria, low molecular weight proteinuria, and nephrocalcinosis; MIM 300009)
NOS 27-0090 Hypophosphatemic rickets with hypercalciuria, SLC34A3-related AR SLC34A3 241530 Autosomal recessive (HHRH)
NOS 27-0100 Vitamin D-dependent rickets, CYP27B1-related AR CYP27B1 264700 Formerly type 1A
NOS 27-0110 Vitamin D-dependent rickets, CYP2R1-related AR CYP2R1 600081 Formerly type 1B
NOS 27-0120 Vitamin D-dependent rickets, VDR-related AR VDR 277440 Formerly type 2A
NOS 27-0130 Vitamin D-dependent rickets, CYP3A4-related AD CYP3A4 619073 Formerly type 3; specific monoallelic variants that increase enzyme activity leading to rapid degradation of active Vitamin D
NOS 27-0140 Vitamin D-dependent rickets, HNRNPC-related AD? HNRNPC see 164020 Formerly type 2B; molecular basis (supposed HNRNPC dominant negative) from a single patient
NOS 27-0150 Familial hyperparathyroidism, CDC73-related AD CDC73 145000, 145001 With or without jaw tumors
NOS 27-0160 Familial hyperparathyroidism linked to chromosome 2 AD 2p14-p13.3 610071 Linkage studies; no gene identified
NOS 27-0170 Familial hyperparathyroidism, GCM2-related AD GCM2 617343 Variants in this gene also cause familial isolated hypoparathyroidism (MIM 618883)
NOS 27-0180 Neonatal hyperparathyroidism, CASR-related AR, AD CASR 239200 """Severe"" form (but see below, transient form also CASR-related). Variants in the CASR gene can also result in autosomal dominant hypocalcemia (MIM 601198)"
NOS 27-0190 Neonatal hyperparathyroidism, TRPV6-related AR TRPV6 618188 Transient form
NOS 27-0200 Familial hypocalciuric hypercalcemia with transient neonatal hyperparathyroidism, CASR-related AD CASR 145980 Other forms of familial hypocalciuric hypercalcemia do not show significant skeletal phenotypes
NOS 27-0210 Calcium pyrophosphate deposition disease (familial chondrocalcinosis), ANKH-related AD ANKH 118600 Loss-of-function variants (see als craniometaphyseal dysplasia, dominant type)
NOS 27-0220 Calcium pyrophosphate deposition disease (familial chondrocalcinosis), TNFRSF11B-related AD TNFRSF11B see 602643 Apparently monoallelic gain-of-function variants
NOS 27-0230 Cutaneous skeletal hypophosphatemia syndrome MOS HRAS   Somatic mosaicism for activating variants in HRAS with elevated FGF23 levels
NOS 27-0240 Cutaneous skeletal hypophosphatemia syndrome MOS NRAS   Somatic mosaicism for activating variants in NRAS with elevated FGF23 levels
  Note: Hyperparathyroidism due to parathyroid adenoma occurs in a number of genetic disorders, e.g. in Multiple Endocrine Neoplasias (see MIM for variants) - See also Group 28, below, as well as Raine dysplasia, FAM20C-related        
Group 28 Skeletal disorders of the parathyroid hormone signaling cascade        
NOS 28-0010 Metaphyseal dysplasia, Jansen type, PTHR1-related AD PTHR1 156400 Caused by activating variants
NOS 28-0020 Metaphyseal dysplasia, Csukasi-Krakow type, SIK3-related AR SIK3 618162 disruption of mTOR signalling downstream of the PTH receptor
NOS 28-0030 Blomstrand dysplasia, PTHR1-related AR PTHR1 215045 Caused by recessive (biallelic) loss-of-function variants
NOS 28-0040 Eiken dysplasia, PTHR1-related AR PTHR1 600002 Caused by recessive (biallelic) hypomorphic variants
NOS 28-0050 Brachydactyly, PTHLH-related (brachdactyly type E2) AD PTHLH 613382 Haploinsufficiency; with or without short stature
NOS 28-0060 Osteolysis, PTHLH-related AD PTHLH   Duplications of PTHLH causing acro-osteolysis; see also group 30 and group 18
  Note: see also Acrodysostosis, PDE4D-related and PRKAR1A-related, above; and Albright hereditary osteodystrophy, GNAS-related. Monoallelic loss-of-function variants in PTHR1 lead to primary failure of tooth eruption (MIM 125350)        
Group 29 Osteolysis group        
NOS 29-0010 Familial expansile osteolysis, TNFRSF11A-related AD TNFRSF11A 174810, 602080 Includes early-onset familial Paget disease of bone. See other TNFRSF11A-related phenoytpes in Group 24
NOS 29-0020 Mandibuloacral dysplasia, LMNA-related AR LMNA 248370 See also Progeria (in this group), LMNA-related cardiomyopathy and brachydactyly (Group 19) as well as many other conditions in MIM related to LMNA
NOS 29-0030 Mandibuloacral dysplasia, ZMPSTE24-related AR ZMPSTE24 608612  
NOS 29-0040 Mandiculoacral dysplasia, MTX2-related AR MTX2 619127  
NOS 29-0050 Progeria, Hutchinson-Gilford type, LMNA-related AD LMNA 176670  
NOS 29-0060 Multicentric osteolysis, nodulosis and arthropathy (MONA), MMP2-related AR MMP2 259600 Includes Winchester-Torg syndrome and nodulosis-arthropathy-osteolysis syndrome
NOS 29-0070 Multicentric osteolysis, nodulosis and arthropathy (MONA), MMP14-related AR MMP14 277950 A biallelic homozygous MMP14 variant seen in the original Winchester syndrome family
NOS 29-0080 Hajdu-Cheney syndrome, NOTCH2-related AD NOTCH2 102500 Includes the Serpentine fibula-polycystic kidney syndrome (SFPKS)
NOS 29-0090 Multicentric carpal-tarsal osteolysis with and without nephropathy, MAFB-related AD MAFB 166300  
NOS 29-0100 Penttinen syndrome, PDGFRB-related AD PDGFRB 601812 See also MIM 601812-Kosaki overgrowth syndrome
NOS 29-0110 Nestor Guillermo progeria syndrome, BANF1-related AR BANF1 603811  
NOS 29-0120 Farber disease, ASAH1-related AR ASAH1   The chronic, adult form of Farber disease can present as osteolysis
  Note: several neurologic conditions may cause acroosteolysis. See also Osteolysis, PTHLH-related (above), Pyknodysostosis, CTSK-related; cleidocranial dysplasia, RUNX2-related; Keutel syndrome, MGP-related; Singleton-Merten dysplasia, IFIH-related; and Singleton-Merten dysplasia, DDX58-related        
Group 30 Disorganized development of skeletal components group        
NOS 30-0010 Multiple cartilaginous exostoses, EXT1-related (MCE; or multiple osteochondromas, MO)  AD EXT1 133700  
NOS 30-0020 Multiple cartilaginous exostoses, EXT2-related (MCE; or multiple osteochondromas, MO)  AD EXT2 133701  
NOS 30-0030 Cherubism, SH3BP2-related AD SH3BP2 118400  
NOS 30-0040 Fibrous dysplasia, polyostotic form (McCune-Albright syndrome), GNAS-related MOS GNAS 174800 Somatic mosaicism for gain-of-function variants; includes Mazabraud syndrome with intramuscular myxomas
NOS 30-0050 Progressive osseous heteroplasia (POH), GNAS-related AD GNAS 166350 Germline loss-of-function of paternal allele
NOS 30-0060 Metachondromatosis, PTPN11-related AD PTPN11 156250 Loss-of-function variants (in contrast to Noonan syndrome) with loss of heterozygosity in lesional tissue
NOS 30-0070 Osteoglophonic dysplasia, FGFR1-related AD FGFR1 166250 Craniosynostosis is also an important feature (group 34)
NOS 30-0080 Fibrodysplasia ossificans progressiva (FOP), ACVR1-related AD ACVR1 135100 Most cases sporadic but dominant transmission documented
NOS 30-0090 Neurofibromatosis type 1, NF1-related AD NF1 162200  
NOS 30-0100 Cherubism with gingival fibromatosis (Ramon syndrome) AR   266270 Some similarities to primary intraosseous vascular malformation, ELMO2-related (see below)
NOS 30-0110 Dysplasia epiphysealis hemimelica (Trevor) SP   127800 "Some familial cases reported (""familial Trevor disease"") but probably represent a different condition"
NOS 30-0120 Lipomembraneous osteodystrophy with leukoencephalopathy, TREM2-related (Nasu-Hakola) AR TREM2 618193 Also known as presenile dementia with bone cysts
NOS 30-0130 Lipomembraneous osteodystrophy with leukoencephalopathy, TYROBP-related (Nasu-Hakola) AR TYROBP 221770 Also known as presenile dementia with bone cysts
NOS 30-0140 Enchondromatosis, IDH1-related (Ollier disease) MOS IDH1 166000 Somatic mosaicism for specific IDH1 variants. See also MIM 147700 and 137800
NOS 30-0150 Enchondromatosis, IDH2-related (Ollier disease) MOS IDH2 166000 Somatic mosaicism for IDH2 variants; significantly rarer than IDH1 variants. See also MIM 147650 and 613657, D-2-hydroxyglutaric aciduria 2
NOS 30-0160 Enchondromatosis with hemangiomas, IDH1-related (Maffucci disease) MOS IDH1 614569 Somatic mosaicism for specific IDH1 variants. See also MIM 147700 and 137800
NOS 30-0170 Enchondromatosis with hemangiomas, IDH2-related (Maffucci disease) MOS IDH2 614569 Somatic mosaicism for IDH2 variants; significantly rarer than IDH1 variants. See also MIM 147650 and 613657, D-2-hydroxyglutaric aciduria 2
NOS 30-0180 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria, IDH1-related MOS IDH1 614875 Includes so-called cheirospondyloenchondromatosis. Somatic mosaicism for IDH1 variants. Possibly also IDH2 variants but not yet well documented
NOS 30-0190 Primary intraosseous vascular malformation, ELMO2-related AR ELMO2 606893  
NOS 30-0200 Osteofibrous dysplasia, MET-related AD, SP MET 607278 "Possibly corresponding to the former ""Campanacci dysplasia"""
NOS 30-0210 Genochondromatosis AD   137360 """Geno"" from Greek ""knee"", but upper limbs also affected. Probably includes the condition known as Vaandrager-Peña syndrome"
NOS 30-0220 Gorham-Stout disease and familial diffuse angiomatosis of bone SP (MOS?), AD   see 123880 "Severe Gorham-Stout disease is mostly sporadic. Somatic KRAS variants have been found in rare cases. In contrast, milder cases may be familial (""familial diffuse cystic angiomatosis of bone""; see OMIM 123880)."
  "Note: PTEN-related disorders are not included because the overgrowth is restricted to macrocephaly.- See also: Proteus syndrome, AKT1-related; Spondyloenchondrodysplasia with immune dysregulation (SPENCD), ACP5-related; Spondyloepimetaphyseal dysplasia, COL2A1-related (""SED with marked metaphyseal changes"", including dysspondyloenchondromatosis); Cutaneous skeletal hypophosphatemia syndrome, HRAS- related and NRAS-related. Some patients with SOX6 variants have osteochondromas."        
Group 31 Overgrowth (tall stature) syndromes and segmental overgrowth        
NOS 31-0010 Marfan syndrome, FBN1-related AD FBN1 154700 See also as differential diagnosis: homocystinuria and marfanoid habitus with ID (Lujan Fryns syndrome): MED12; ZDHHC9; UPF3B
NOS 31-0020 Congenital contractural arachnodactyly (Beals-Hecht syndrome), FBN2-related AD FBN2 121050  
NOS 31-0030 Loeys-Dietz syndrome, TGFBR1-related AD TGFBR1 609192 Osteopenia with propensity to fractures may be observed in all variants of the Loeys-Dietz syndrome
NOS 31-0040 Loeys-Dietz syndrome, TGFBR2-related AD TGFBR2 610168  
NOS 31-0050 Loeys-Dietz syndrome, TGFB2-related AD TGFB2 614816  
NOS 31-0060 Loeys-Dietz syndrome, TGFB3-related AD TGFB3 615582  
NOS 31-0070 Loeys-Dietz syndrome, SMAD2-related AD SMAD2 619656  
NOS 31-0080 Loeys-Dietz syndrome, SMAD3-related AD SMAD3 613795  
NOS 31-0090 Weaver syndrome, EZH2-related AD EZH2 277590 Some cases reported with NSD1, EED and SUZ12 variants
NOS 31-0100 Cohen-Gibson (Weaver-like) syndrome, EED-related AD EED 617561  
NOS 31-0110 Imagawa-Matsumoto (Weaver like) syndrome, SUZ12-related AD SUZ12 606245  
NOS 31-0120 Sotos syndrome, NSD1-related AD NSD1 117550  
NOS 31-0130 Sotos syndrome, APC2-related AR APC2 617169  
NOS 31-0140 Malan (Sotos-like) syndrome, NFIX-related AD NFIX 614753  
NOS 31-0150 Luscan-Lumish syndrome, SETD2-related AD SETD2 616831  
NOS 31-0160 Tatton-Brown-Rahman syndrome, DNMT3A-related AD DNMT3A 615879  
NOS 31-0170 Marshall-Smith syndrome, NFIX-related AD NFIX 602535 See also Malan syndrome. The localization of the monoallelic variants determine the Malan vs. Marshall-Smith phenotype
NOS 31-0180 Beckwith-Wiedemann syndrome AD 11p15.5 region 130650 Variant or deletion of imprinted genes within the chromosome 11p15.5 region
NOS 31-0190 Simpson-Golabi-Behmel syndrome, GPC3-related XL GPC3 312870  
NOS 31-0200 Proteus syndrome, AKT1-related MOS AKT1 176920  
NOS 31-0210 Hypoinsulinemic hypoglycemia with hemihypertrophy (HIHGHH), AKT2-related AD AKT2   Gene also associated with OMIM 125853 diabetes mellitus type II
NOS 31-0220 Congenital ipomatous overgrowth, vascular Malformations, epidermal Nevi, spinal/skeletal anomalies/scoliosis (CLOVES) syndrome, PIK3CA-related MOS PIK3CA 612918 Also named PIK3CA-related overgrowth syndrome (PROS); somatic variants; see MIM 171834
NOS 31-0230 Fibroadipose hyperplasia, PIK3CA-related MOS PIK3CA see 171834 See MIM 171834 for the many conditions associated with somatic PIK3CA variants
NOS 31-0240 Snyder-Robinson syndrome (intellectual disability, tall stature, osteoporosis and fractures), SMS-related XLR SMS 309583  
NOS 31-0250 Overgrowth syndrome with 2q37 translocations SP NPPC see 600296 Overgrowth probably caused by overexpression of NPPC
NOS 31-0260 Tall stature with long halluces, NPR2-related AD NPR2 615923 Monoallelic gain-of-function variants in NPR2; in OMIM as epiphyseal chondrodysplasia, Miura type
NOS 31-0270 Tall stature with long halluces, NPR3-related AR NPR3 619543 Biallelic loss-of-function variants in NPR3; in OMIM as Boudin-Mortier syndrome
NOS 31-0280 Moreno-Nishimura-Schmidt syndrome SP   608811  
NOS 31-0290 Camptodactyly, tall stature and hearing loss syndrome (CATSHL), FGFR3-related AD, AR FGFR3 610474 Original family with monoallelic (dominant negative?) variant; a second family with biallelic variants (see group 1)
NOS 31-0300 Kosaki overgrowth syndrome, PDGFRB-related AR PDGFRB 616592 See also MIM 601812-Pentinnen syndrome
NOS 31-0310 Segmental odontomaxillary dysplasia, ACTB-related MOS ACTB see 102630 See PMID 32585735; see also MIM 243310-Baraitser-Winter syndrome
  See also: Shprintzen-Goldberg syndrome, SKI-related, in the craniosynostosis group. Note: this group does not include disorders that cause overgrowth secondary to vascular malformations, such as Klippel-Trenaunay syndrome, at least until a genetic (somatic) origin will have been demonstrated.        
Group 32 Genetic inflammatory or rheumatoid-like osteoarthropathies        
NOS 32-0010 Progressive pseudorheumatoid dysplasia (PPRD), WISP3-related AR WISP3 208230 Also known as SED with progressive arthropathy
NOS 32-0020 Chronic infantile neurologic cutaneous articular syndrome (CINCA), CIAS1-related (neonatal onset multisystem inflammatory disease (NOMID)) AD CIAS1 607115  
NOS 32-0030 Sterile multifocal osteomyelitis, periostitis, and pustulosis (CINCA/NOMID-like), IL1RN-related AR IL1RN see 147679  
NOS 32-0040 Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anemia (CRMO with CDA; Majeed syndrome), LPIN2-related AR LPIN2 609628  
NOS 32-0050 Familial juvenile arthritis with hyaluronidase deficiency, HYAL1-related AR HYAL1 601492 Also known as mucopolysaccharidosis type 9, although clinically no storage
NOS 32-0060 Hyaline Fibromatosis Syndrome, ANTXR2-related AR ANTXR2 236490, 228600 Previously known as Infantile systemic hyalinosis, Juvenile Hyaline Fibromatosis, and Puretic syndrome
  Farber disease, ASAH1-related (osteolysis group 29, and MIM 228000) shows phenotypic overlap with the conditions in this group.        
Group 33 Cleidocranial dysplasia and related disorders        
NOS 33-0010 Cleidocranial dysplasia, RUNX2-related AD RUNX2 119600 See also MIM 156510-metaphyseal dysplasia with maxillary hypoplasia, as well as non-syndromic midline craniosynostosis, RUNX2-related, below
NOS 33-0020 Cleidocranial-like dysplasia, CBFB-related AD CBFB see 121360 See also MIM 601626, familial leukemia
NOS 33-0030 CDAGS syndrome (craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, genital anomalies, skin eruption), RNU12-related AR RNU12 603116  
NOS 33-0040 Yunis-Varon dysplasia, FIG4-related AR FIG4 216340 Gene also causes OMIM 612577 amyotrophic lateral sclerosis 11, and OMIM 611228 CMT disease 4J
NOS 33-0050 Yunis-Varon dysplasia, VAC14-related AR VAC14   Only one case of VAC14-related Yunis-Varon reported so far, so association needs to be confirmed. Gene also associated with OMIM 617054 Striatonigral degeneration, childhood-onset (several patients reported)
NOS 33-0060 Parietal foramina, MSX2-related AD MSX2 168500  
NOS 33-0070 Parietal foramina, ALX4-related AD ALX4 609597 See also Frontonasal dysplasia type 1
NOS 33-0080 Parietal foramina with cleidocranial dysplasia, MSX2-related AD MSX2 168550 MSX2 variants also cause craniosynostosis Boston type
  See also: Pyknodysostosis, CTSK-related; Cutis laxa, ATP6V0A2-related; Mandibuloacral dysplasia, LMNA-related; Progeria, Hutchinson-Gilford type, LMNA-related; and Hajdu-Cheney syndrome, NOTCH2-related, for similar clavicular defects or osteolysis. See also Crane-Heise syndrome (MIM 218090) , the nosologic status of which remains unclear.        
Group 34 Syndromes featuring craniosynostosis        
NOS 34-0010 Pfeiffer syndrome, FGFR1-related AD FGFR1 101600 Most have FGFR1 p.P252R variant; Includes Jackson-Weiss syndrome (MIM 123150)
NOS 34-0020 Pfeiffer syndrome, FGFR2-related AD FGFR2 101600  
NOS 34-0030 Apert syndrome, FGFR2-related AD FGFR2 101200  
NOS 34-0040 Craniosynostosis with cutis gyrata (Beare-Stevenson), FGFR2-related AD FGFR2 123790 Notably p.S372Y or p.Y375C variants
NOS 34-0050 Crouzon syndrome, FGFR2-related AD FGFR2 123500  
NOS 34-0060 Crouzon-like craniosynostosis with acanthosis nigricans, FGFR3-related AD FGFR3 612247 Defined by specific FGFR3 p.A391E variant; also known as Crouzonodermoskeletal syndrome
NOS 34-0070 Craniosynostosis, Muenke type, FGFR3-related AD FGFR3 602849 Defined by specific FGFR3 p.P250R variant
NOS 34-0080 Antley-Bixler syndrome, POR-related AR POR 201750  
NOS 34-0090 Craniosynostosis Boston type, MSX2-related AD MSX2 604757 Heterozygous p.P148H variant in a two families
NOS 34-0100 Saethre-Chotzen syndrome, TWIST1-related AD TWIST1 101400 Variants in FGFR3, FGFR2 and TCF12 have been reported to cause phenotypes resembling Saethre-Chotzen syndrome
NOS 34-0110 Shprintzen-Goldberg syndrome, SKI-related AD SKI 182212  
NOS 34-0120 Baller-Gerold syndrome, RECQL4-related AR RECQL4 218600 see other phenotypes associated with RECQL4 variants, above
NOS 34-0130 Carpenter syndrome, RAB23-related AR RAB23 201000  
NOS 34-0140 Carpenter syndrome, MEGF8-related AR MEGF8 614976  
NOS 34-0150 Craniosynostosis, TCF12-related AD TCF12 615314 Frequently coronal craniosynostosis
NOS 34-0160 Craniosynostosis, SIX1-related AD SIX1 see 601205 Frequently sagittal and lambdoid synostosis. See also MIM 608389 - Branchiootic syndrome 3, and 605192- Deafness, autosomal dominant 23, for other SIX1-related phenotypes
NOS 34-0170 Complex craniosynostosis, ERF-related AD ERF 600775 Variants in ERF also cause Chitayat hyperphalangism syndrome (Group 19)
NOS 34-0180 Non-syndromic midline (metopic / sagittal) craniosynostosis, SMAD6-related AD? SMAD6 617439 Rare SMAD6 variants and a common BMP2 polymorphism may interact to produce craniosynostosis; subject disputed
NOS 34-0190 Non-syndromic midline craniosynostosis, RUNX2-related AD RUNX2   Gain-of-function variants, duplications, triplications
NOS 34-0200 Structural brain anomalies with impaired ID and craniosynostosis / craniosynostosis type 6 AD ZIC1 618736  
NOS 34-0210 Craniosynostosis and dental anomalies (CRSDA), IL11RA-related AR IL11RA 614188  
NOS 34-0220 Craniosynostosis, retained deciduous teeth and intellectual disability, IL6ST-related AR IL6ST see 600694 Single case reported, with preserved LIF signaling. See Stüve-Wiedemann syndrome, IL6ST-related (above, group 24) as well as IL6ST-MIM 600694 for other phenotypes associated with IL6ST
NOS 34-0230 Cutis laxa with craniosynostosis, short stature, brachydactyly, and syndactyly, LTBP1-related AR LTBP1 619451  
NOS 34-0240 Bohring-Opitz syndrome, ASXL1-related AD ASXL1 605039  
NOS 34-0250 Craniosynostosis, radiohumeral fusion and other skeletal defects, CYP26B1-related AR CYP26B1 614416 CYP26B1is a retinoid acid-degrading enzyme, pathogenesis involves retinoic acid-associated morphogenesis
NOS 34-0260 Cardiac, facial and digital anomalies with developmental delay (CAFDADD), TRAF7-related AD TRAF7 618164 Multisuture craniosynostosis is one of the features
NOS 34-0270 Craniosynostosis, hypertrichosis, progeroid appearance, bone dysplasia, characteristic face (Fontaine progeroid syndrome, Gorlin-Chaudhry-Moss syndrome), SLC25A24-related AD SLC25A24 612289  
NOS 34-0280 Curry-Jones syndrome, SMO-related MOS SMO 601707 Activating variant c.1234C>T (p.L412F)
NOS 34-0290 3MC syndrome, MASP1-related AR MASP1 257920 Craniosynostosis in 20-30%
NOS 34-0300 3MC syndrome, COLEC11-related AR COLEC11 265050 Craniosynostosis in 20-30%
NOS 34-0310 3MC syndrome, COLEC10-related AR COLEC10 248340 Craniosynostosis in 20-30%
NOS 34-0320 Weiss-Kruszka syndrome, ZNF462-related AD ZNF462 618619 Metopic ridging or CSO (metopic, lambdoid, 9/24)
NOS 34-0330 Au-Kline syndrome, HNRNPK-related AD HNRNPK 616580 Craniosynostosis and vertebral anomalies in a significant proportion of cases
NOS 34-0340 Char syndrome, TFAP2B-related AD TFAP2B 169100 Mainly with loss-of-function variants
NOS 34-0350 Syndrome with developmental and speech delay, dysmorphic facies, craniosynostosis and T-cell abnormalities AD BCL11B 618092 Craniosynostosis in some affected individuals
  Craniosynostosis is not rare and may have a non-genetic pathogenesis in many cases. It can also occur secondarily in any form of rickets. Conditions in which craniosynostosis is an occasional feature have not been included. - See also: cranioectodermal dysplasia (several types in the ciliopathy group); SEMD, RSPRY1-related; osteocraniostenosis, FAM111A-related; Osteogenesis imperfecta with craniosynostosis (Cole-Carpenter syndrome), P4HB-related; CDAGS syndrome, RNU12-related; syndactyly (Lueken type, with or without craniosynostosis), IHH-related; and Multiple synostoses syndrome, FGF9-related. Craniosynostosis can also be present in Loeys-Dietz syndromes, Meier-Gorlin syndrome, CDC45-related and GINS2-related; Hypophosphatasia, ALPL-related; Hypophosphatemic rickets, PHEX-related; Greig cephalopolysyndactyly syndrome, GLI3-related; and others.        
Group 35 Craniofacial Dysostoses        
NOS 35-0010 Mandibulofacial dysostosis, TCOF1-related (Treacher-Collins, Franceschetti-Klein) AD TCOF1 154500  
NOS 35-0020 Mandibulofacial dysostosis, POLR1B-related (Treacher-Collins, Franceschetti-Klein) AD POLR1B 618939  
NOS 35-0030 Mandibulofacial dysostosis, POLR1C-related (Treacher-Collins, Franceschetti-Klein) AR POLR1C 248390  
NOS 35-0040 Mandibulofacial dysostosis, POLR1D-related (Treacher-Collins, Franceschetti-Klein) AD, AR POLR1D 613717  
NOS 35-0050 Mandibulofacial dysostosis with limb deficiencies, POLR1A-related (Cincinnati type) AD POLR1A 616462 "The original description was ""acrofacial dysostosis: a mandibulofacial dysostosis with limb anomalies"". The limb anomalies are variable"
NOS 35-0060 Mandibulofacial dysostosis with microcephaly , EFTUD2-related (Guion-Almeida type) AD EFTUD2 610536  
NOS 35-0070 Mandibulofacial dysostosis with alopecia, EDNRA-related AD EDNRA 616367  
NOS 35-0080 Burns-McKeown syndrome, TXNL4A-related AR TXNL4A 608572 Some pathogenic variants are in the promoter region; severity is variable
NOS 35-0090 Postaxial acrofacial dysostosis, DHODH-related (Miller syndrome) AR DHODH 263750  
NOS 35-0100 Acrofacial dysostosis, SF3B4-related (Nager syndrome) AD, AR SF3B4 154400, 201170 "Both monoallelic and biallelic variants are at the basis of a spectrum that also includes the former ""Rodriguez type"" of acrofacial dysostosis "
NOS 35-0110 Agnathia-Otocephaly complex, PRRX1-related AD, AR PRRX1 202650  
NOS 35-0120 Frontonasal dysplasia, ALX3-related AR ALX3 136760  
NOS 35-0130 Frontonasal dysplasia, ALX4-related AR ALX4 613451  
NOS 35-0140 Frontonasal dysplasia, ALX1-related AR ALX1 613456  
NOS 35-0150 Frontonasal dysplasia, SIX2-related AD SIX2 see 604994  
NOS 35-0160 Frontonasal dysplasia with additional malformations (Sweeney-Cox syndrome), TWIST1-related AD TWIST1 617746 Results from specific amino acid substitutions in TWIST1
NOS 35-0170 Craniofrontonasal syndrome, EFN1B-related XL EFNB1 304110  
NOS 35-0180 Acromelic frontonasal dysostosis, ZSWIM6-related AD ZSWIM6 603671  
NOS 35-0190 Richieri-Costa-Pereira syndrome, EIF4A3-related AR EIF4A3 268305  
NOS 35-0200 Auriculocondylar syndrome, GNAI3-related (type 1) AD GNAI3 602483  
NOS 35-0210 Auriculocondylar syndrome, PLCB4-related (type 2) AR, AD PLCB4 614669  
NOS 35-0220 Auriculocondylar syndrome, EDN1-related (type 3) AR EDN1 615706  
NOS 35-0230 Orofaciodigital syndrome type I, OFD1-related XL OFD1 311200  
NOS 35-0240 Weyers acrofacial (acrodental) dysostosis, EVC1-related AD EVC1 193530 See also group 10
NOS 35-0250 Weyers acrofacial (acrodental) dysostosis, EVC2-related AD EVC2 193530 See also group 10
NOS 35-0260 Teebi hypertelorism syndrome, SPECCIL-related AD SPECC1L 145420  
NOS 35-0270 Craniolenticulosutural dysplasia, SEC23A-related AR, AD SEC23A 607812 Monoallelic and biallelic inheritance observed
NOS 35-0280 Faciogenital dysplasia, FGD1-related (Aarskog-Scott syndrome) XL FGD1 305400  
NOS 35-0290 Baraitser-Winter syndrome, ACTB-related AD ACTB 243310  
NOS 35-0300 Baraitser-Winter syndrome, ACTG1-related AD ACTG1 614583  
NOS 35-0310 Cerebrofaciothoracic dysplasia, TMCO1-related AR TMCO1 213980  
NOS 35-0320 Opitz GBBB syndrome, MID1-related XL MID1 300000  
NOS 35-0330 Arhinia microphthalmia syndrome, SMCHD1-related (Bosma) AD SMCHD1 603457  
NOS 35-0340 Acrofrontofacionasal dysostosis AR   201180  
NOS 35-0350 Hemifacial microsomia SP, AD   164210 Includes Goldenhar syndrome and Oculo-Auriculo-Vertebral spectrum; genetically heterogeneous; SF3B2 haploinsufficiency identified in ~3% of sporadic and ~25% of familial cases; in some cases a microduplication on 14q23.1
  See also Orofaciodigital syndrome type 4 (Mohr-Majewski), TCTN3-related; Endocrine-cerebro-osteo dysplasia (ECO), CILK1-related; the Cerebro-Costo-Mandibular syndrome, SNRPB-related (group 36, below); and Robinow syndrome (see variants in group 15)        
Group 36 Vertebral and costal dysostoses        
NOS 36-0010 Currarino syndrome, MNX1-related AD MNX1 176450 Possible clinical o)verlap with caudal regression syndrome (see MIM 600145; the role of heterozygous variants in VANGL1 remains to be confirmed)
NOS 36-0020 Spondylocostal dysostosis, DLL3-related AR DLL3 277300 Possible role of CNVs in TBX6 in modulating the phenotype?
NOS 36-0030 Spondylocostal dysostosis, MESP2-related AR MESP2 608681  
NOS 36-0040 Spondylocostal dysostosis, LFNG-related AR LFNG 609813  
NOS 36-0050 Spondylocostal dysostosis, HES7-related AR HES7 613686  
NOS 36-0060 Spondylocostal dysostosis, TBX6-related AR, AD TBX6 122600 Possible role of CNVs in TBX6
NOS 36-0070 Spondylocostal dysostosis, RIPPLY2-related AR RIPPLY2 616566  
NOS 36-0080 Vertebral segmentation defect (congenital scoliosis) with variable penetrance, MESP2-related AD MESP2 608681  
NOS 36-0090 Vertebral segmentation defect (congenital scoliosis) with variable penetrance, HES7-related AD HES7 613686  
NOS 36-0100 Short stature, cervical segmentation defects, and developmental delay, CDK10-related AR CDK10 617694  
NOS 36-0110 Klippel-Feil syndrome, GDF6-related AD GDF6 118100 Role of GDF6 variants in Klippel-Feil syndrome as well as in AD spondylothoracic dysostosis remains unclear
NOS 36-0120 Klippel-Feil syndrome, MEOX1-related AR MEOX1 214300  
NOS 36-0130 Klippel-Feil syndrome, GDF3-related AD GDF3 613702  
NOS 36-0140 Klippel-Feil syndrome, MYO18B-related AR MYO18B 616549  
NOS 36-0150 Cervico-oculo-acoustic (Wildervanck) syndrome SP   314600 Congenital perceptive deafness, Klippel-Feil anomaly (see 118100), and abducens palsy with retractio bulbi
NOS 36-0160 Cerebro-costo-mandibular syndrome (rib gap syndrome), SNRPB-related AD SNRPB 117650  
NOS 36-0170 Cerebro-costo-mandibular-like syndrome, COG1-related AR COG1 611209 Also known as CDG IIg
NOS 36-0180 Diaphanospondylodysostosis, BMPER-related AR BMPER 608022 Includes ischiospinal dysostosis, a term that has been used for milder cases
NOS 36-0190 Spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD), NKX3-2-related AR NKX3-2 613330  
NOS 36-0200 NAD deficiency syndrome, HAAO-related AR HAAO 617660 With associated cardiac, limb and renal defects; VACTERL-like
NOS 36-0210 NAD deficiency syndrome, KYNU-related AR KYNU 617661 In some cases VACTERL-like
NOS 36-0220 NAD deficiency syndrome, NADSYN1-related AR NADSYN1 618845 In some cases VACTERL-like
NOS 36-0230 VATER/VACTERL association SP   192350  
NOS 36-0240 VACTERL association with hydrocephalus (VACTERL-H), FANCB-related XL FANCB 300514 FANCB-related Fanconi anemia may present in hemizygous males with the VACTERL-hydrocephalus phenotype
NOS 36-0250 VACTERL association with hydrocephalus (VACTERL-H), ZIC3-related XL ZIC3 314390  
NOS 36-0260 Uniparental disomy, paternal, for chromosome 14 (UPD14; Kagami-Ogata syndrome) SP 14q32? 608149 "Imprinted genes at 14q32 may have a role in this complex phenotype with skeletal malformations such as ""coat-hanger ribs"""
  VACTERL is nowadays defined as a “Recurrent Constellation of Embryonic Malformations” (RCEM; see Adam et al, AJMG 2020) without a single genetic basis. It may be mimicked by NAD deficiency syndrome, Fanconi anemia and others. The diagnosis is supported by negative genetic analysis. - See also Spondylocarpotarsal synostosis syndrome, FLNB-related and RFLNA-related, Robinow syndrome (variants in group 15), and Cerebrofaciothoracic dysplasia, TMCO1-related (Group 35)        
Group 37 Patellar dysostoses        
NOS 37-0010 Ischiopatellar dysplasia (small patella syndrome), TBX4-related AD TBX4 147891 See MIM 601360 - posterior amelia for the biallelic phenotype
NOS 37-0020 Nail-patella syndrome, LMX1B-related AD LMX1B 161200  
NOS 37-0030 Genitopatellar syndrome, KAT6B-related AD KAT6B 606170  
  See also Meier-Gorlin syndromes in the primordial dwarfism group (group 21), and the Pseudoachondroplasia/MED group (Group 9) for conditions with patellar changes; see also ischio-pubic-patellar dysplasia as mild expression of campomelic dysplasia, SOX9-related; RAPADILINO syndrome, RECQL4-related. Patellar hypoplasia is variably present in Clubfoot with or without deficiency of long bones and/or mirror-image polydactyly, PITX1-related.        
Group 38 Limb hypoplasia – reduction defects group        
NOS 38-0010 Ulnar-mammary syndrome, TBX3-related AD TBX3 181450  
NOS 38-0020 Holt-Oram syndrome, TBX5-related AD TBX5 142900  
NOS 38-0030 Holt-Oram/Ulnar Mammary blended phenotype AD TBX3, TBX5   CNVs involving both TBX3 and TBX5 may result in combined phenotype
NOS 38-0040 Posterior Amelia, TBX4-related AR TBX4 601360 See also ischiopatellar syndrome for the monoallelic TBX4-related phenotype
NOS 38-0050 Cornelia de Lange syndrome, NIPBL-related AD NIPBL 122470  
NOS 38-0060 Cornelia de Lange syndrome, SMC1A-related XL SMC1A 300590  
NOS 38-0070 Cornelia de Lange syndrome, SMC3-related AD SMC3 610759  
NOS 38-0080 Cornelia de Lange syndrome, RAD21-related AD RAD21 614701  
NOS 38-0090 Cornelia de Lange syndrome, HDAC8-related XL HDAC8 300882  
NOS 38-0100 Thrombocytopenia-absent radius (TAR) syndrome, RBM8A-related AR RBM8A 274000 Deletion and common SNP on other allele that has regulatory function
NOS 38-0110 Thrombocythemia with distal limb defects, THPO-related AD THPO 187950 Distal limb defects postulated as consequence of vascular occlusions
NOS 38-0120 Okihiro syndrome (Duane syndrome with radial ray anomaly), SALL4-related AD SALL4 607323 Includes IVIC syndrome
NOS 38-0130 Cousin syndrome, TBX15-related AR TBX15 260660  
NOS 38-0140 Roberts syndrome, ESCO2-related AR ESCO2 268300  
NOS 38-0150 Tibial hemimelia-polysyndactyly-triphalangeal thumb (Werner syndrome), ZRS-related AD ZRS 188740 Monoallelic variants in ZRS, a limb-specific enhancer of SHH that is located within intron 5 of the LMBR1 gene
NOS 38-0160 Clubfoot with or without deficiency of long bones and/or mirror-image polydactyly, PITX1-related AD PITX1 119800 In some patients bilateral patellar hypoplasia (see group 37)
NOS 38-0170 Acheiropodia, LMBR1-related AR LMBR1 200500 The Brazilian founder allele is deletion spanning exon 4 of LMBR1 that probably affects the activity of ZRS, the limb-specific enhancer of SHH. In a further patient, biallelic deletion of exons 1 to 16 of LMBR1, including the ZRS
NOS 38-0180 Engrailed-1 related dorsoventral syndrome (ENDOVES), limb-brain type AR EN1 619218 One single patient with a biallelic frameshift variant described
NOS 38-0190 Engrailed-1 related dorsoventral syndrome (ENDOVES), limb-only type AR MAENLI 619217 MAENLI is a lncRNA regulating EN1 expression
NOS 38-0200 Tetra-amelia, WNT3-related AR WNT3 273395  
NOS 38-0210 Tetra-amelia, RSPO2-related AR RSPO2 618021  
NOS 38-0220 Limb reduction syndrome, WNT7A-related AR WNT7A 276820, 228930 Includes former Al-Awadi Raas-Rothschild limb-pelvis hypoplasia-aplasia as well as Fuhrmann syndrome
NOS 38-0230 RAPADILINO syndrome, RECQL4-related AR RECQL4 266280 See also Baller-Gerold syndrome, RECQL4-related. See MIM 266280 for explanation of the RAPADILINO acronym
NOS 38-0240 Rothmund-Thompson syndrome, RECQL4-related AR RECQL4 268400  
NOS 38-0250 Rothmund-Thompson syndrome, ANAPC1-related AR ANAPC1 618625  
NOS 38-0260 Rothmund-Thompson syndrome, DNA2-related AR DNA2    
NOS 38-0270 Adams-Oliver syndrome (aplasia cutis congenita and transverse limb defects), ARHGAP31-related AD ARHGAP31 100300  
NOS 38-0280 Adams-Oliver syndrome (aplasia cutis congenita and transverse limb defects), DOCK6-related AR DOCK6 614219  
NOS 38-0290 Adams-Oliver syndrome (aplasia cutis congenita and transverse limb defects), RBPJ-related AD RBPJ 614814  
NOS 38-0300 Adams-Oliver syndrome (aplasia cutis congenita and transverse limb defects), DLL4-related AR DLL4 616589  
NOS 38-0310 Adams-Oliver syndrome (aplasia cutis congenita and transverse limb defects), EOGT-related AD EOGT 615297  
NOS 38-0320 Adams-Oliver syndrome (aplasia cutis congenita and transverse limb defects), NOTCH1-related AD NOTCH1 616028  
NOS 38-0330 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome (BILU syndrome), TOP2B-related AD TOP2B 609296 Also known as Hoffmann syndrome (see MIM 609296)
NOS 38-0340 Scapulo-iliac dysplasia (Kosenow syndrome) AD   169550  
NOS 38-0350 Hypoglossia-hypodactylia (Hanhart syndrome) SP   103300  
NOS 38-0360 Poland syndrome SP, AD   173800 Most commonly sporadic and probably non-genetic; some familial cases reported but no specific gene identified so far
NOS 38-0370 Femoral facial syndrome (FFS) SP   134780 Some phenotypic overlap with FFU syndrome (below)
NOS 38-0380 Femur-fibula-ulna syndrome (FFU) SP   228200  
NOS 38-0390 Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome (FATCO) SP   246570  
NOS 38-0400 Tibial hemimelia (isolated) SP   275220 Possibly non-genetic etiology
NOS 38-0410 Sirenomelia SP     Rare cases reported as associated with monoallelic CDX2 variants with variable expressivity
NOS 38-0420 Fanconi anemia AR (several) 227650 The complex genetic basis of Fanconi anemia and its complementation groups and loci is acknowledged but not further listed in this Nosology; please refer to MIM or to specialized reviews
  There is overlap between this group and the split hand-foot malformation group. - See also Baller-Gerold syndrome, RECQL4-related; Congenital hemidysplasia, ichthyosis, limb defects (CHILD) syndrome, NSDHL-related; as well as the mesomelic and acromesomelic dysplasias groups (above). Some entities in this group (e.g. the Femoral-Facial syndrome and the Femur-fibula-ulna (FFU) syndromes) might be considered “” (RCEM; see the note to VACTERL in Group 36)        
Group 39 Split hand/foot with and without other manifestations        
NOS 39-0010 Ankyloblepharon-ectodermal dysplasia-cleft palate (AEC) AD TP63 106260 see other TP63-related disorders in this group (below)
NOS 39-0020 Ectrodactyly-ectodermal dysplasia cleft-palate syndrome Type 3 (EEC3) AD TP63 604292  
NOS 39-0030 Ectrodactyly-ectodermal dysplasia-macular dystrophy syndrome (EEM) AR CDH3 225280  
NOS 39-0040 Limb-mammary syndrome (including ADULT syndrome) AD TP63 603543  
NOS 39-0050 Split hand-foot malformation, isolated form, type 4 (SHFM4) AD TP63 605289  
NOS 39-0060 Split hand-foot malformation, isolated form, type 1 (SHFM1) AD DLX5 220600 Structural variations at locus; also regulatory variants affecting exons of DYNC1I1 that regulate DLX5; association with deafness in a single family may be coincidental; a recessive DLX5 syndrome may exist
NOS 39-0070 Split hand-foot malformation, isolated form, type 1 (SHFM1) AD DLX6 183600  
NOS 39-0080 Split hand-foot malformation, isolated form, type 3 (SHFM3) AD 10q24 246560 Duplications at 10q24 encompassing LBX1, BTRC, POLL, DPCD and FBXW4
NOS 39-0090 Split hand-foot malformation, isolated form, type 6 (SHFM6) AR WNT10B 225300  
NOS 39-0100 Split-foot malformation with mesoaxial polydactyly (SFMMP) AR ZAK 616890  
NOS 39-0110 Split-hand-foot malformation with or without long bone deficiency (SHFLD), BHLHA9-related AD BHLHA9 612576 Duplications at 17p13.3 that include BHLHA9. Phenotypic penetrance is less than 50% and shows markedly variable expressivity; includes the so-called Gollop-Wolfgang complex
NOS 39-0120 Hartsfield syndrome, FGFR1-related AD FGFR1 615465  
NOS 39-0130 Split hand-foot malformation, EPS15L-related AD EPS15L1   Structural variants (deletions) at this locus; one consanguineous family with homozygous point variant in EPS15L1 but inheritance still unclear
NOS 39-0140 Aplasia cutis congenita with ectrodactyly, UBA2-related AD UBA2   "19q13.11 deletions may also cause this phenotype. In OMIM as ""aplasia cutis congenita with ectrodactyly skeletal syndrome"" (a redundant name)"
NOS 39-0150 Focal dermal hypoplasia (Goltz Syndrome), PORCN-related XLD PORCN 305600  
Group 40 Polydactyly-Syndactyly-Triphalangism group        
NOS 40-0010 Preaxial polydactyly, SHH-related AD SHH 174400 Formerly preaxial polydactyly type 1 and type 2 (with triphalangeal thumb); regulatory domain variant or duplication of ZRS (limb enhancer of SHH)
NOS 40-0020 Preaxial polydactyly, GLI1-related AR GLI1 174400  
NOS 40-0030 Preaxial polydactyly, GLI3-related AD GLI3 174700  
NOS 40-0040 Preaxial polydactyly type 3 (PPD3) AD   174600  
NOS 40-0050 Mirror-image polydactyly of hands and feet (Laurin-Sandrow syndrome), SHH-related AD SHH 135750 Duplication of ZRS (limb enhancer of SHH)
NOS 40-0060 Postaxial polydactyly, GLI1-related AR GLI1 618123  
NOS 40-0070 Greig cephalopolysyndactyly syndrome, GLI3-related AD GLI3 175700  
NOS 40-0080 Pallister-Hall syndrome, GLI3-related AD GLI3 146510  
NOS 40-0090 Hypothalamic hamartomas and polydactyly (Pallister-Hall-like) syndrome, SMO-related AR SMO 241800  
NOS 40-0100 Culler-Jones syndrome, GLI2-related AD GLI2 615849 Hypopituitarism
NOS 40-0110 Synpolydactyly, FBLN1-related AD FBLN1 608180  
NOS 40-0120 Synpolydactyly, HOXD13-related AD HOXD13 186000  
NOS 40-0130 Postaxial polydactyly, isolated (type A10), KIAA0825-related AR KIAA0825 618498  
NOS 40-0140 Townes-Brocks syndrome, SALL1-related AD SALL1 107480  
NOS 40-0150 Lacrimo-auriculo-dento-digital syndrome (LADD), FGFR2-related AD FGFR2 149730  
NOS 40-0160 Lacrimo-auriculo-dento-digital syndrome (LADD), FGFR3-related AD FGFR3 149730  
NOS 40-0170 Lacrimo-auriculo-dento-digital syndrome (LADD), FGF10-related AD FGF10 149730  
NOS 40-0180 Acrocallosal syndrome, KIF7-related AR KIF7 200990  
NOS 40-0190 Acro-pectoral-vertebral dysplasia (F-syndrome), WNT6-related AD WNT6 102510 Structural variations of locus resulting in ectopic activation of WNT6
NOS 40-0200 Cenani-Lenz syndactyly, LRP4-related AR LRP4 212780  
NOS 40-0210 Cenani-Lenz-like syndactyly, GREM/FMN1-related AD GREM1, FMN1 see 212780 Monoallelic duplication of both GREM1 and FMN1 loci (one individual)
NOS 40-0220 Oligosyndactyly, radio-ulnar synostosis, hearing loss and renal defects syndrome, FMN1-related AR FMN1   Biallelic deletion of the FMN1 gene (one individual)
NOS 40-0230 Mesoaxial synostotic syndactyly with phalangeal reduction (Malik-Percin), BHLHA9-related AD BHLHA9 609432  
NOS 40-0240 STAR syndrome (syndactyly of toes, telecanthus, anal and renal malformations), FAM58A-related XLD FAM58A 300707 X-linked dominant (only affected females known, possibly lethal in males)
NOS 40-0250 Syndactyly type 1 (III-IV) AD   185900  
NOS 40-0260 Syndactyly type 3 (IV-V), GJA1-related AD GJA1 186100  
NOS 40-0270 Syndactyly type 4 (I-V) Haas type, SHH-related AD SHH 186200 Duplication of ZRS (limb enhancer of SHH)
NOS 40-0280 Syndactyly type 5 (Brachydactyly-Syndactyly syndrome; syndactyly with metacarpal and metarsal fusion), HOXD13-related AD HOXD13 186300, 610713  
NOS 40-0290 Syndactyly (Lueken type, with or without craniosynostosis), IHH-related AD IHH 185900 Duplication of IHH and regulatory region on 2q35; includes syndactyly with craniosynostosis (Philadelphia type)
NOS 40-0300 Metacarpal 4-5 fusion, FGF16-related XLR FGF16 309630  
NOS 40-0310 Syndactyly with microcephaly and mental retardation (Filippi syndrome), CKAP2L-related AR CKAP2L 272440  
NOS 40-0320 Synpolydactyly plus syndrome, MAPKAPK5-related AR MAPKAPK5 619869 In OMIM as neurocardiofaciodigital syndrome
  Note: the Smith-Lemli-Opitz syndrome can present with polydactyly and/or syndactyly. The different variants of Meckel syndrome can have polydactyly and are included under the ciliopathies (see there). The Bardet-Biedl syndromes may have polydactyly as a secondary feature and have not been included in this neither in this group nor in the ciliopathies. - See also Clubfoot with or without deficiency of long bones and/or mirror-image polydactyly, PITX1-related. The entity called "Crossed polysyndactyly" not included as unclear whether or not it is a distinct entity.        
Group 41 Defects in joint formation and synostoses        
NOS 41-0010 Multiple synostoses syndrome, NOG-related AD NOG 186500, 186570 Includes: Stapes ankylosis with broad thumbs and toes, Tarsal-Carpal coalition syndrome, proximal Symphalangism 1A; see also Brachydactyly type B2, NOG-related, in the brachydactyly group
NOS 41-0020 Multiple synostoses syndrome, GDF5-related AD GDF5 610017 see other GDF5-related disorders
NOS 41-0030 Multiple synostoses syndrome, FGF9-related AD FGF9 612961  
NOS 41-0040 Multiple synostoses syndrome, GDF6-related AD GDF6 617898  
NOS 41-0050 Liebenberg syndrome, PITX1-related AD PITX1 186550 Structural variants encompassing the H2AFY gene resulting in ectopic activation of PITX1 in upper limb
NOS 41-0060 Short stature, auditory atresia, mandibular hypoplasia, skeletal abnormalities (SAMS) syndrome, GSC-related AR GSC 602471  
NOS 41-0070 Radio-ulnar synostosis with amegakaryocytic thrombocytopenia, HOXA11-related AD HOXA11 605432  
NOS 41-0080 Radio-ulnar synostosis with amegakaryocytic thrombocytopenia, MECOM-related AD MECOM 616738  
NOS 41-0090 Radio-ulnar synostosis with microcephaly (Giuffré-Tsukahara syndrome)     603438 X-linked recessive inheritance suggested
  See also Spondylocarpotarsal synostosis syndrome, FLNB-related and RFLNA-related; Cardiospondylocarpofacial syndrome, MAP3K7-related; mesomelic dysplasia with acral synostoses (Verloes-David-Pfeiffer type); Baller-Gerold syndrome, RECQL4-related; and Antley-Bixler syndrome, POR-related