INTERNATIONAL NOSOLOGY AND CLASSIFICATION OF GENETIC SKELETAL DISORDERS - 2006 REVISION

A. Superti-Furga, S. Unger and the ISDS Nosology Group;
Centre for Pediatrics and Adolescent Medicine, Department of Pediatrics, University of Freiburg, Germany; and Institute for Human Genetics, University of Freiburg, Germany

*This paper was prepared by Drs. Superti-Furga and Unger on behalf of the International Skeletal Dysplasia Society and in collaboration with the 2006 Nosology Group: Peter Beighton*, Cape Town; Luisa Bonafé*, Lausanne; Nancy Braverman*, Baltimore; Michael Briggs, Manchester; Dan Cohn, Los Angeles; Valérie Cormier*, Paris; Clair Francomano*, Baltimore; Christine Hall*, London; William Horton*, Portland; Ilkka Kaitila, Helsinki; Deborah Krakow, Los Angeles; Ralph Lachman*, Los Angeles; Brendan Lee, Houston; Martine LeMerrer*, Paris; Geert Mortier*, Gent; Stephan Mundlos*, Berlin; Gen Nishimura*, Tokyo; Andrew Poznanski*, Chicago; David Rimoin*, Los Angeles; Stephen Robertson*, Dunedin; Ravi Savarirayan*, Melbourne; Jürgen Spranger*, Mainz; David Sillence*, Sydney; Andrea Superti-Furga*, Freiburg; Sheila Unger*, Freiburg; Matthew Warman, Boston; William Wilcox, Los Angeles; Andrew Wilkie, Oxford; Bernhard Zabel*, Freiburg; Andreas Zankl*, Lausanne. Members marked with an asterisk participated in the compilation workshop held at the 7th ISDS meeting in Martigny (www.isds.ch).

The 7th ISDS meeting and the Nosology workshop were supported by the March of Dimes and sponsored by BioMarin, Genzyme, Kenko, Nestlé, Novartis IBMR, and Milupa.

To be cited as:

Superti-Furga A, Unger S, and the Nosology Group of the International Skeletal Dysplasia Society. International Nosology and Classification of Genetic Skeletal Disorders - 2006 Revision. American Journal of Medical Genetics Part A 143A:1–18 (2007)

Correspondence:
A. Superti-Furga
Centre for Pediatrics and Adolescent Medicine
University of Freiburg
Mathildenstr. 1
DE-79106 Freiburg
Germany
Email asuperti@uniklinik-freiburg.de

The original PDF can be downloaded here.
 

Outline:

1. FGFR3 group
2. Type 2 collagen group
3. Type 11 collagen group
4. Sulphation disorders group
5. Perlecan group
6. Filamin group
7. Short-rib dysplasia (SRP) (with or without polydactyly) group
8. Multiple epiphyseal dysplasias and pseudoachondroplasia group
9. Metaphyseal dysplasias
10. Spondylometaphyseal dysplasias (SMD)
11. Spondylo-epi(-meta)physeal dysplasias (SE(M)D)
12. Severe spondylodysplastic dysplasias
13. Moderate spondylodysplastic dysplasias (brachyolmias)
14. Acromelic dysplasias
15. Acromesomelic dysplasias
16. Mesomelic and rhizo-mesomelic dysplasias
17. Bent bones dysplasias
18. Slender bone dysplasias
19. Dysplasias with multiple joint dislocations
20. Chondrodysplasia punctata (CDP) group
21. Neonatal osteosclerotic dysplasias
22. Increased bone density group (without modification of bone shape)
23. Increased bone density group with metaphyseal and/or diaphyseal involvement
24. Decreased bone density group
25. Defective mineralization group
26. Lysosomal Storage Diseases with Skeletal Involvement (Dysostosis Multiplex Group)
27. Osteolysis group
28. Disorganized development of skeletal components group
29. Cleidocranial dysplasia group
30. Craniosynostosis syndromes and other cranial ossification disorders
31. Dysostoses with predominant craniofacial involvement
32. Dysostoses with predominant vertebral and costal involvement
33. Patellar dysostoses
34. Brachydactylies (with or without extraskeletal manifestations)
35. Limb hypoplasia–reduction defects group
36. Polydactyly-Syndactyly-Triphalangism group
37. Defects in joint formation and synostoses		        
       
       
       
       
       
       
       
       
       
       
       
       
       
       
       
       
       
       
       
       
       
       
       
       
       
           
Name of Disorder Inheritance MIM No. Locus Gene Protein MIM No. Notes
1. FGFR3 Group              
Thanatophoric dysplasia type 1 (TD1) AD 187600 4p16.3 FGFR3 FGFR3 134934 Includes previous San Diego type
Thanatophoric dysplasia type 2 (TD2) AD 187601 4p16.3 FGFR3 FGFR3 134934  
SADDAN (severe achondroplasia-developmental delay- acanthosis nigricans) AD See 134934 4p16.3 FGFR3 FGFR3 134934  
Achondroplasia AD 100800 4p16.3 FGFR3 FGFR3 134934  
Hypochondroplasia AD 146000 4p16.3 FGFR3 FGFR3 134934  
Hypochondroplasia–like dysplasia AD, SP           Similar to hypochondroplasia but unlinked to FGFR3, probably heterogeneous
See also Group 30 for craniosynostoses syndromes linked to FGFR3 mutations; LADD in Group 36 for another FGFR3-related phenotype; and Torrance dysplasia (Group 2) and the severe spondylodysplastic dysplasias (Group 12) for the differential diagnosis of TD1 and TD2.              
               
2. Type 2 collagen Group              
Achondrogenesis type 2 (ACG2; Langer-Saldino) AD 200610 12q13.1 COL2A1 Type 2 collagen 120140  
Platyspondylic dysplasia, Torrance type AD 151210 (erroneous)  12q13.1 COL2A1 Type 2 collagen 120140 See also Severe Spondylodysplastic dysplasias (Group 13)
Hypochondrogenesis AD 200610 12q13.1 COL2A1 Type 2 collagen 120140  
Spondyloepiphyseal dysplasia congenital (SEDC) AD 183900 12q13.1 COL2A1 Type 2 collagen 120140  
Spondyloepimetaphyseal dysplasia (SEMD) Strudwick type AD 184250 12q13.1 COL2A1 Type 2 collagen 120140  
Kniest dysplasia AD 156550 12q13.1 COL2A1 Type 2 collagen 120140  
Spondyloperipheral dysplasia AD 271700 12q13.1 COL2A1 Type 2 collagen 120140  
Mild SED with premature onset arthrosis AD   12q13.1 COL2A1 Type 2 collagen 120140 Includes SED Namaqualand type
Stickler syndrome type 1 AD 108300 12q13.1 COL2A1 Type 2 collagen 120140  
Stickler-like syndrome             unlinked to either COL2A1, COL11A1 or COL11A2
               
3. Type 11 collagen Group              
Stickler syndrome type 2 AD 604841 1p21 COL11A1 Type 11 collagen alpha-1 chain 120280  
Marshall syndrome AD 154780 1p21 COL11A1 Type 11 collagen alpha-1 chain 120280  
Otospondylomegaepiphyseal dysplasia (OSMED), recessive type AR 215150 6p21.3 COL11A2 Type 11 collagen alpha-2 chain 120290  
Otospondylomegaepiphyseal dysplasia (OSMED), dominant type (Weissenbacher-Zweymüller syndrome, Stickler syndrome type 3) AD 215150 6p21.3 COL11A2 Type 11 collagen alpha-2 chain 120290  
See also Stickler syndrome type 1 in Group 2              
               
4. Sulphation Disorders Group              
Achondrogenesis type 1B (ACG1B) AR 600972 5q32-33 DTDST SLC26A2 sulfate transporter 606718  
Atelosteogenesis type 2 (AO2) AR 256050 5q32-33 DTDST SLC26A2 sulfate transporter 606718 Includes de la Chapelle dysplasia and McAlister dysplasia
Diastrophic dysplasia (DTD) AR 222600 5q32-33 DTDST SLC26A2 sulfate transporter 606718  
MED, autosomal recessive type (rMED; EDM4) AR 226900 5q32-33 DTDST SLC26A2 sulfate transporter 606718 See also multiple epiphyseal dysplasias and pseudoachondroplasia Group (Group 9)
SEMD Omani type AR 608637 10q22.1 CHST3 Chondroitin 6-sulfotransferase 603799 See also SEMD Group (Group 11)
SEMD Pakistani type AR 603005 10q23-q24 PAPSS2 PAPS-Synthetase 2 603005 See also SEMD Group (Group 11)
5. Perlecan Group              
Dyssegmental dysplasia, Silverman-Handmaker type AR 224410 1q36-34 PLC (HSPG2) Perlecan 142461 Relationship to dyssegmental dysplasia, Rolland-Desbuquois type (Group 11) unclear
Schwartz-Jampel syndrome (myotonic chondrodystrophy) AR 255800 1q36-34 PLC (HSPG2) Perlecan 142461 Includes previous Burton dysplasia
6. Filamin Group              
Frontometaphyseal dysplasia XLD 305620 Xq28 FLNA Filamin A 300017  
Osteodysplasty Melnick- Needles XLD 309350 Xq28 FLNA Filamin A 300017  
Otopalatodigital syndrome type 1 (OPD1) XLD 311300 Xq28 FLNA Filamin A 300017  
Otopalatodigital syndrome type 2 (OPD2) XLD 304120 Xq28 FLNA Filamin A 300017  
Atelosteogenesis type 1 (AO1) AD 108720 3p14.3 FLNB Filamin B 603381 Includes Boomerang dysplasia, Piepkorn dysplasia, and spondylohumerofemoral (giant cell) dysplasia
Atelosteogenesis type 3 (AO3) AD 108721 3p14.3 FLNB Filamin B 603381  
Larsen syndrome AD 150250 3p14.3 FLNB Filamin B 603381  
Spondylo-carpal-tarsal dysplasia AR 272460 3p14.3 FLNB Filamin B 603381  
7. Short-rib dysplasia (with or without polydactyly) Group              
Chondroectodermal dysplasia (Ellis-van Creveld) AR 225500 4p16 EVC1 EvC gene 1 604831  
4p16 EVC2 EvC gene 2 607261
SRP type 1/3 (Saldino-Noonan/Verma-Naumoff) AR 263510          
SRP type 2 (Majewski) AR 263520          
SRP type 4 (Beemer) AR 269860          
Oral-Facial-Digital syndrome type 4 (Mohr-Majewski) AR 258860          
Asphyxiating thoracic dysplasia (ATD; Jeune) AR 208500          
Thoracolaryngopelvic dysplasia (Barnes) AD 187760          
8. Multiple epiphyseal dysplasia and pseudoachondroplasia Group              
Pseudoachondroplasia (PSACH) AD 177170 19p12-13.1 COMP COMP 600310  
Multiple epiphyseal dysplasia (MED) type 1 (EDM1) AD 132400 19p13.1 COMP COMP 600310  
Multiple epiphyseal dysplasia (MED) type 2 (EDM2) AD 600204 1p32.2-33 COL9A2 Collagen 9 alpha-2 chain 120260  
Multiple epiphyseal dysplasia (MED) type 3 (EDM3) AD 600969 20q13.3 COL9A3 Collagen 9 alpha-3 chain 120270  
Multiple epiphyseal dysplasia (MED) type 5 (EDM5) AD 607078 2p23-24 MATN3 Matrilin 3 602109  
Multiple epiphyseal dysplasia (MED) type 6 (EDM6) AD 120210 6q13 COL9A1 Collagen 9 alpha-1 chain 120210  
Multiple epiphyseal dysplasia (MED), other types             Some MED cases unlinked to known genes
Familial hip dysplasia (Beukes) AD 142669 4q35        
See also Multiple Epiphyseal Dysplasia, recessive type (rMED; EDM4) in sulphation disorders (Group 4)              
9. Metaphyseal dysplasias              
Metaphyseal dysplasia, Schmid type (MCS) AD 156500 6q21-22.3 COL10A1 Collagen 10 alpha-1 chain 120110  
Cartilage-Hair-Hypoplasia (CHH; metaphyseal dysplasia, McKusick type) AR 250250 9p13 RMRP RNA component of RNAse H 157660 Includes Anauxetic dysplasia
Metaphyseal dysplasia, Jansen type AD 156400 3p22-21.1 PTHR1 PTH/PTHrP receptor 1 168468 Activating mutations - see also: Eiken dysplasia in Group 25
Metaphyseal dysplasia with pancreatic insufficiency and cyclic neutropenia (Shwachman-Bodian-Diamond syndrome, SBDS) AR 260400  7q11 SBDS SBDS gene, function still unclear 607444  
Metaphyseal anadysplasia AD 309645   MMP13 Matrix metalloproteinase 13 600108 See also SEMD Missouri type in Group 11
Chronic infantile neurologic cutaneous articular syndrome (CINCA) / neonatal onset multisystem inflammatory disease (NOMID) AD 607115 1q44 CIAS1 Cryopyrin 606416  
Metaphyseal dysplasia, Spahr type AR 250400          
Metaphyseal Acroscyphodysplasia (various types) AR 250215          
10. Spondylometaphyseal dysplasias (SMD)              
Spondylometaphyseal dysplasia Kozlowski type AD 184252          
Spondylometaphyseal dysplasia, Sutcliffe/corner fracture type AD 184255          
SMD with severe genu valgum AD 184253         Includes SMD Schmidt type and SMD Algerian type 
SMD with cone-rod dystrophy AR 608940          
See also disorders in Group 11 as well as SMD Sedaghatian type in Group 12              
11. Spondylo-epi(-meta)physeal dysplasias (SE(M)D)              
Dyggve-Melchior-Clausen dysplasia (DMC) AR 223800 18q12-21.1 DYM Dymeclin 607461 Includes Smith-McCort dysplasia
Immuno-osseous dysplasia (Schimke) AR 242900 2q34-36 SMARCAL1 SWI/SNF-related regulator of chromatin subfamily A-like protein 1 606622  
Progressive pseudorheumatoid dysplasia (PPRD) AR 208230 6q22-23 WISP3 WNT1-inducible signaling pathway protein 3 603400  
SED Kimberley type AD 608361 15q26.1 AGC1 Aggrecan core protein 155760  
SED Wolcott-Rallison type AR 226980 2p12 EIF2AK3 Translation initiation factor 2-alpha kinase-3 604032  
SEMD Matrilin type AR 608728  2p23-p24 MATN3 Matrilin 3 602109 See also matrilin-related MED in Group 8
SEMD Missouri type AD 602111 11q22.3 MMP13 Matrix metalloproteinase 13 600108 See also Metaphyseal Anadysplasia in Group 9
Metatropic dysplasia (various forms) AD/AR 156530          
SED tarda, X-linked (SED-XL) XLR 313400 Xp22 SEDL Sedlin 300202  
Dyssegmental dysplasia, Rolland-Desbuquois type AR 224400         Unclear whether related to perlecan or not
SPONASTRIME dysplasia AR 271510          
SEMD Maroteaux type (pseudo-Morquio type 2) AR 184095          
SEMD short limb – abnormal calcification type   AR 271665         See also other dysplasias with stippling in Group 20
SEMD with joint laxity (SEMD-JL) Beighton type AR 271640          
SEMD with joint laxity (SEMD-JL) leptodactylic or Hall type AD 603546          
SEMD Handigodu type  AD           Includes Mseleni joint disease
Late onset SED, recessive type  AR            
See also: Opsismodysplasia (Group 14), SEMDs (Group 11), mucopolysaccharidosis type 4 (Morquio syndrome) and other conditions in Group 26.              
12. Severe spondylodysplastic dysplasias              
Achondrogenesis type 1A (ACG1A) AR 200600          
SMD Sedaghatian type AR 250220          
Opsismodysplasia AR 258480          
Fibrochondrogenesis AR 228520          
Schneckenbecken dysplasia AR 269250          
See also: Thanatophoric dysplasia, types 1 and 2 (Group 1); Achondrogenesis type 1B ( ACG1B, Group 4), ACG2 and Torrance dysplasia (Group 2)              
13. Moderate spondylodysplastic dysplasias (brachyolmias)              
Brachyolmia, Hobaek / Toledo types AR 271530          
271630  
Brachyolmia, autosomal dominant type AD 113500          
See also SED tarda (SED-XL) and late-onset recessive SED (both in Group 11)              
14. Acromelic dysplasias              
Trichorhinophalangeal dysplasia types 1/3 AD 190350 8q24 TRPS1 Zinc finger transcription factor 604386  
190351  
Trichorhinophalangeal dysplasia type 2 (Langer-Giedion) AD 150230 8q24 TRPS1 Zinc finger transcription factor 604386 Microdeletion syndrome; see also Multiple Cartilagineous Exostoses in Group 28
EXT1 Exostosin 1 608177
     
Acrocapitofemoral dysplasia AR 607778 2q33-q35 IHH Indian hedgehog 600726  
Angel-shaped phalangoepiphyseal dysplasia (ASPED) AD 105835 20q11.2 GDF5 Growth and Differentiation Factor 5 601146 See also Brachydactyly type C (Group 34)
Weill-Marchesani syndrome, recessive type AR 277600 19p13 ADAMTS10 Metalloproteinase with thrombospondin-like repeats 608990  
Weill-Marchesani syndrome, dominant type AD 608328 15q21.1 FBN1 Fibrillin 1 134797 see also Shprintzen-Goldberg syndrome (Group 30)
Brachydactyly-Hypertension syndrome (Bilginturian) AD 112410 12p12.2-11.2        
Acrodysostosis AD 101800          
Acrolaryngeal dysplasia AD            
Acromicric dysplasia AD ? 102370          
Cranioectodermal dysplasia (Sensenbrenner) AR 218330          
Craniofacial conodysplasia AD            
Familial digital arthropathy with brachydactyly AD 606835          
Geleophysic dysplasia AD ? 231050          
Saldino-Mainzer dysplasia AR 266920          
See also Short rib dysplasias (Group 7)              
15. Acromesomelic dysplasias              
Acromesomelic dysplasia type Maroteaux AR 602875 9p13-12 NPR2 Natriuretic peptide receptor 2 108961  
Grebe dysplasia AR 200700 20q11.2 GDF5 Growth and Differentiation Factor 5 601146 Includes acromesomelic dysplasia Hunter-Thompson type; see also Brachydactylies (Group 34)
Fibular hypoplasia and complex brachydactyly (Du Pan) AR 228900 20q11.2 GDF5 Growth and Differentiation Factor 5 601146 see also Brachydactylies (Group 34)
Acromesomelic dysplasia with genital anomalies AR 609441 4q23-24 BMPR1B Bone morphogenetic protein receptor 1B 603248  
Acromesomelic dysplasia, Osebold-Remondini type AD 112910          
16. Mesomelic and rhizo-mesomelic dysplasias              
Dyschondrosteosis (Leri- Weill) Pseudo-AD 127300 Xpter-p22.32 (pseudo-autosomal) SHOX  Short stature – homeobox gene 312865 Includes Reinhardt-Pfeiffer dysplasia, MIM 191400
Langer type (homozygous dyschondrosteosis) Pseudo-AR 249700 Xpter-p22.32 (pseudo-autosomal) SHOX  Short stature – homeobox gene 312865  
Robinow syndrome, recessive type AR 268310 9q22 ROR2 Receptor tyrosine kinase-like orphan receptor 2 602337 Includes previous COVESDEM (costo-vertebral segmentation defect with mesomelia); see also brachydactyly type B, Group 34
Robinow syndrome, dominant type AD 180700          
Mesomelic dysplasia, Kantaputra type AD 156232 2q24-32        
Mesomelic dysplasia, Nievergelt type AD 163400          
Mesomelic dysplasia, Kozlowski-Reardon type AR 249710          
Mesomelic dysplasia with acral synostoses (Verloes-David-Pfeiffer type) AD 600383          
Mesomelic dysplasia, Savarirayan type (Triangular Tibia-Fibular Aplasia) SP 605274         Possibly related to Nievergelt dysplasia
Omodysplasia, dominant type AD 164745          
Omodysplasia, recessive type AR 108721      
17. Bent bones dysplasias              
Campomelic dysplasia (CD) AD 114290 17q24.3-25.1 SOX9 SRY-box 9 211970 Includes acampomelic campomelic dysplasia (ACD) as well as mild campomelic dysplasia (MIM 602196)
Stüve-Wiedemann dysplasia AR 601559 5p13.1 LIFR Leukemia Inhibitory Factor Receptor 151443 Includes formerly neonatal Schwartz-Jampel syndrome or SJS type 2
Cumming syndrome   211890         syndromal status uncertain
Kyphomelic dysplasia, several forms   211350         probably heterogeneous
Bent bones at birth can be seen in a variety of conditions, including Antley-Bixler syndrome, cartilage-hair hypoplasia, hypophosphatasia, osteogenesis imperfecta, dyssegmental dysplasia, and others              
18. Slender bone dysplasia Group              
3M syndrome AR 273750  6p21.1 CUL7 Cullin 7 609577  
Kenny-Caffey dysplasia type 1 AR 244460 1q42-q43 TBCE tubulin-specific chaperone E 604934  
Kenny-Caffey dysplasia type 2 AD 127000          
Microcephalic osteodysplastic primordial dwarfism type 1/3 (MOPD1) AR 210710         Includes Taybi-Linder cephaloskeletal dysplasia
Microcephalic osteodysplastic primordial dwarfism type 2 (MOPD2; Majewski type) AR 210720          
Microcephalic osteodysplastic dysplasia, Saul-Wilson type AR            
IMAGE syndrome (Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia, and Genital Anomalies) XLR 300290 Chr. X        
Osteocraniostenosis SP 602361          
19. Dysplasias with multiple joint dislocations              
Desbuquois dysplasia AR 251450  17q25.3        
Recessive Larsen-like syndrome AR 245600         Includes La Reunion Island dysplasia
Pseudodiastrophic dysplasia AR 264180          
See also: Atelosteogenesis type 3 and Larsen syndrome (Group 6); SEMDs with joint laxity (Group 11)              
20. Chondrodysplasia punctata (CDP) Group              
CDP Conradi-Hünermann type (CDPX2) XLD 302960 Xp11 EBP Emopamil-binding protein 300205  
CDP X-linked recessive, brachytelephalangic type (CDPX1) XLR 302950 Xp22.3 ARSE Arylsulfatase E 300180  
 
CHILD (congenital hemidysplasia, icthyosis, limb defects) XLD 308050 Xp11 NSDHL NAD(P)H steroid dehydrogenase-like protein 300275  
CHILD (congenital hemidysplasia, icthyosis, limb defects) XLD 308050 Xq28 EBP Emopamil-binding protein 300205  
Greenberg dysplasia AR 215140 1q42.1 LBR Lamin B receptor, 3-beta-hydroxysterol delta (14)-reductase 600024 Includes hydrops-ectopic calcification-moth-eaten appearance dysplasia (HEM) 
Rhizomelic CDP type 1 AR 215100 6q22-24 PEX7 Peroxysomal PTS2 receptor 601757  
Rhizomelic CDP type 2 AR 222765 1q42 DHPAT Dihydroxyacetonephosphate acyltransferase (DHAPAT) 602744  
Rhizomelic CDP type 3 AR 600121 2q31 AGPS Alkylglycerone-phosphate synthase (AGPS) 603051  
Astley-Kendall dysplasia SP            
CDP tibial-metacarpal type AD 118651          
Dappled diaphyseal dysplasia AR           Possibly identical to Greenberg dysplasia
See also SEMD short limb - abnormal calcification type in Group 11. Stippling can occur in several syndromes such as Zellweger, Smith-Lemli-Opitz and others.              
21. Neonatal osteosclerotic dysplasias              
Blomstrand dysplasia AR 215045 3p22-21.1 PTHR1 PTH/PTHrP receptor 1 168468 Caused by recessive inactivating mutations; see also Eiken dysplasia (Group 25) and Jansen dysplasia (Group 9)
Desmosterolosis AR 602398 1p33-31.1 DHCR24 3-beta-hydroxysterol delta-24-reductase 606418 See also other sterol-metabolism related conditions in Group 20
Caffey disease (including infantile and attenuated forms)  AD 114000  17q21-22 COL1A1 Collagen 1, alpha-1 chain 120150 See also the various forms of osteogenesis imperfecta related to collagen 1 genes (Group 24)
Caffey disease (severe variants with prenatal onset) AR 114000          
Raine dysplasia AR 259775          
See also Astley-Kendall dysplasia in Group 20              
22. Increased bone density group (without modification of bone shape)              
Osteopetrosis, severe neonatal or infantile forms AR 259700 11q13 TCIRG1 Subunit of ATPase proton pump 604592  
AR   16p13 CLCN7 Chloride channel 602727  
AR   6q21 GL (OSTM1) Grey lethal / Osteopetrosis associated transmembrane protein 607649  
Osteopetrosis, intermediate form AR 259710 16p13 CLCN7 Chloride channel pump 602727  
Osteopetrosis with renal tubular acidosis AR 259730 8q22 CA1 Carbonic anhydrase 1 114800  
Osteopetrosis, late-onset form type 1 AD 166600 11q13.4 LRP5 Low density lipoprotein receptor-related protein 5 603506 Includes Worth type osteosclerosis (MIM 144750)
 
Osteopetrosis, late-onset form type 2 AD 166600 16p13 CLCN7 Chloride channel pump 602727  
Osteopetrosis with ectodermal dysplasia and immune defect (OLEDAID) XL 300301 Xq28 IKBKG (NEMO) Inhibitor of kappa light polypeptide gene enhancer, kinase of 300301  
Pyknodysostosis AR 265800 1q21 CTSK Cathepsin K 601105  
Osteopoikilosis AD 155950 12q14 LEMD3 LEM domain-containing 3 607844 Includes Buschke-Ollendorff syndrome (MIM 166700 )
Melorheostosis with osteopoikilosis AD 155950 12q14 LEMD3 LEM domain-containing 3 607844 Includes mixed sclerosing bone dysplasia
Melorheostosis             no germline LEMD3 mutations identified so far
Dysosteosclerosis AR 224300          
Osteomesopyknosis AD 166450          
Osteopathia striata with cranial sclerosis XLD 166500          
Osteopetrosis with infantile neuroaxonal dysplasia AR? 600329          
Osteosclerosis, Stanescu type AD 122900          
23. Increased bone density group with metaphyseal and/or diaphyseal involvement              
Craniometaphyseal dysplasia, autosomal dominant type AD 123000 5p15.2-14.2 ANKH Homolog of mouse ANK (ankylosis) gene 605145  
Diaphyseal dysplasia Camurati-Engelmann AD 131300 19q13 TGFbeta1 Transforming growth factor beta 1 190180  
Diaphyseal dysplasia Camurati-Engelmann, type 2             Unlinked to TGFbeta1
Oculodentoosseous dysplasia (ODOD) mild type AD 164200 6q22-23 GJA1 Gap junction protein alpha-1 121014  
Oculodentoosseous dysplasia (ODOD) severe type AR 257850         Possibly homozygous form of mild ODOD
Osteoectasia with hyperphosphatasia (Juvenile Paget disease) AR 239000  8q24 OPG Osteoprotegerin 602643  
Sclerosteosis AR 269500 17q12-21 SOST Sclerostin 605740  
Endosteal hyperostosis, van Buchem type   AR 239100 17q12-21 SOST Sclerostin 605740 52 kb deletion downstream from SOST
Trichodentoosseous dysplasia AD 190320 17q21 DLX3 Distal-less homeobox 3 600525  
Craniometaphyseal dysplasia, autosomal recessive type AR 218400 6q21-22        
Diaphyseal medullary stenosis with bone malignancy AD 112250 9p21-p22        
Craniodiaphyseal dysplasia AR/ AD ? 218300/          
122860  
Craniometadiaphyseal dysplasia, Wormian bone type AR            
Cranio-osteoarthropathy   259100          
Endosteal sclerosis with cerebellar hypoplasia AR 213002          
Lenz-Majewski hyperostotic dysplasia   151050          
Metaphyseal dysplasia, Braun-Tinschert type XL 605946          
Pachydermoperiostosis AD/AR 167100          
Pyle disease AR 265900          
Diaphyseal dysplasia with anemia (Ghosal hemato-diaphyseal dysplasia) AR 231095          
24. Decreased bone density group              
Osteogenesis imperfecta type 1 AD 166200 17q21-22 COL1A1 Collagen 1, alpha-1 chain 120150  
  AD 166240 7q22.1 COL1A2 Collagen 1, alpha-2 chain 120160  
Osteogenesis imperfecta type 2 AD 166210 17q21-22 COL1A1 Collagen 1, alpha-1 chain 120150  
  AD 166210 7q22.1 COL1A2 Collagen 1, alpha-2 chain 120160  
  AR 166210 3p22-p24.1 CRTAP Cartilage-associated protein 605497  
  AR 166210 3p22-p24.1 P3H1 / LEPRE1 Prolyl 3-Hydroxylase 1 (Leprecan) 610339  
Osteogenesis imperfecta type 3 AD 259420 17q21-22 COL1A1 Collagen 1, alpha-1 chain 120150  
  AD 259420 7q22.1 COL1A2 Collagen 1, alpha-2 chain 120160  
  AR 259420 3p22-p24.1 CRTAP Cartilage-associated protein 605497 see also Osteogenesis imperfecta type 7, below
  AR 259420 3p22-p24.1 P3H1 / LEPRE1 Prolyl 3-Hydroxylase 1 (Leprecan) 610339  
  AR 203760 7q22.1 COL1A2 Collagen 1, alpha-2 chain 120160 Extremely rare instances of recessive COL1A2 mutations giving OI at homozygosity
Osteogenesis Imperfecta, recessive, unlinked to COL1A1 and COL1A2 AR 259440         Includes recessive OI, South African form; at present unclear whether mutations in CRTAP and P3H1/LEPRE1 account for all cases or whether further genes involved
Osteogenesis imperfecta type 4  AD 166220 17q21-22 COL1A1 COL1A2 Collagen 1, alpha-1 chain 120150  
7q22.1 Collagen 1, alpha-2 chain 120160
Osteogenesis imperfecta type 5  AD            
Osteogenesis imperfecta type 6             Nosologic dignity uncertain
Osteogenesis imperfecta type 7 (so-called "rhizomelic form") AR   3p22-p24.1 CRTAP Cartilage-associated protein 605497 OI type 7 described in a large Quebec kindred; see also recessive form of OI type 3, above
Osteoporosis-pseudoglioma syndrome AR 259770 11q12-13 LRP5 LDL-receptor related protein 5 603506  
Bruck syndrome type 2 (Osteogenesis Imperfecta with pterygia) AR 609220 3q23-24 PLOD2 Procollagen lysyl hydroxylase 2 601865  
Bruck syndrome type 1 (Osteogenesis Imperfecta with pterygia) AR 259450 17p12        
Singleton-Merten dysplasia AD 182250          
Geroderma osteodysplasticum AR 231070          
Calvarial doughnut lesions with bone fragility AD 126550          
Idiopathic juvenile osteoporosis SP 259750          
Cole-Carpenter dysplasia (bone fragility with craniosynostosis) SP 112240         See craniosynostosis syndromes in Group 30
Spondylo-ocular dysplasia AR 605822         Unlinked to collagen 1 and collagen 2 genes or to LRP5
Osteopenia with radiolucent lesions of the mandible AD 166260          
25. Defective mineralization group              
Hypophosphatasia, perinatal lethal and infantile forms AR 241500 1p36.1-p34 ALPL Alkaline phosphatase, tisssue non-specific (TNSALP) 171760  
Hypophosphatasia, adult form AD 146300 1p36.1-p34 ALPL Alkaline phosphatase, tisssue non-specific (TNSALP) 171760 Includes odontohypophosphatasia
Hypophosphatemic rickets XLD 307800 Xp22 PHEX X-linked hypophosphatemia membrane protease 300550  
Hypophosphatemic rickets AD 193100 12p13.3 FGF23 Fibroblast growth factor 23 605380  
Hypophosphatemic rickets with hypercalciuria AR   9p SLC34A3 Sodium-phosphate cotransporter    
Neonatal hyperparathyroidism, severe form AR 239200 3q13.3-21 CASR Calcium-sensing receptor 601199  
Familial hypocalciuric hypercalcemia with transient neonatal hyperparathyroidism AD 145980 3q13.3-21 CASR Calcium-sensing receptor 601199  
Eiken dysplasia AR 600002 3p22-21.1 PTHR1 PTH/PTHrP receptor 1 168468 See also Blomstrand dysplasia (Group 21) and Metaphyseal dysplasia Jansen type (Group 9)
26. Lysosomal Storage Diseases with Skeletal Involvement (Dysostosis Multiplex Group)              
Mucopolysaccharidosis type 1H  / 1S AR 607014 4p16.3 IDA alpha-1-Iduronidase 252800  
Mucopolysaccharidosis type 2 XLR 309900 Xq27.3-28 IDS Iduronate-2-sulfatase 309900  
Mucopolysaccharidosis type 3A AR 252900 17q25.3 HSS Heparan sulfate sulfatase 605270  
Mucopolysaccharidosis type 3B AR 252920 17q21 NAGLU N-Ac-beta-D-glucosaminidase 252920  
Mucopolysaccharidosis type 3C AR 252930 8p11-q13 (GNAT) Ac-CoA:alpha-glucosaminide N-acetyltransferase   Gene coding for the GNAT activity not cloned yet
Mucopolysaccharidosis type 3D AR 252940 12q14 GNS N-Acetylglucosamine 6-sulfatase 607664  
Mucopolysaccharidosis type 4A AR 253000 16q24.3 GALNS Galactosamine-6-sulfate sulfatase 253000  
Mucopolysaccharidosis type 4B AR 253010 3p21.33 GLBI beta-Galactosidase 230500  
Mucopolysaccharidosis type 6 AR 253200 5q13.3 ARSB Arylsulfatase B 253200  
Mucopolysaccharidosis type 7 AR 253220 7q21.11 GUSB beta-Glucuronidase 253220  
Fucosidosis AR 230000 1p34 FUCA alpha-Fucosidase 230000  
alpha-Mannosidosis AR 248500 19p13.2-12 MANA alpha-Mannosidase 248500  
beta-Mannosidosis   AR 248510 4q22-25 MANB beta-Mannosidase 609489  
Aspartylglucosaminuria AR 208400 4q23-27 AGA Aspartyl-glucosaminidase 208400  
GMI Gangliosidosis, several forms AR 230500 3p21-14.2 GLB1 beta-Galactosidase 230500  
Sialidosis, several forms AR 256550 6p21.3 NEU1 Neuraminidase (sialidase) 608272  
Sialic acid storage disease SIASD AR 269920 6q14-q15 SLC17A5 Sialin (sialic acid transporter) 604322  
Galactosialidosis, several forms AR   256540 20q13.1 PPGB beta-Galactosidase protective protein 256540  
Multiple sulfatase deficiency AR 272200 3p26 SUMF1 Sulfatase-modifying factor-1 607939  
Mucolipidosis II  (I-cell disease) AR 252500 4q21-23 GNPTA N-Acetylglucosamine 1-phosphotransferase 607840  
Mucolipidosis III (Pseudo-Hurler polydystrophy) AR 252600 4q21-23 GNPTA N-Acetylglucosamine 1-phosphotransferase 607840  
27. Osteolysis Group              
Familial expansile osteolysis AD 174810 18q22.1 TNFRSF11A RANK 603499  
Infantile systemic hyalinosis AR 236490 4q21 CMG2 Capillary morphogenesis gene 2 608041 Includes Juvenile Hyaline Fibromatosis (JHF, 228600 ) and Puretic syndrome
Mandibuloacral dysplasia type A AR 248370 1q21.2 LMNA  Lamin A/C 150330  
Progeria, Hutchinson-Gilford type AD 176670 1q21.2 LMNA  Lamin A/C 150330  
Mandibuloacral dysplasia type B AR 608612 1p34 ZMPSTE24 Zinc metalloproteinase 606480  
Torg-Winchester syndrome AR 259600 16q13 MMP2 Matrix metalloproteinase 2 120360 Includes Nodulosis-Arthropathy-Osteolysis syndrome (MIM 605156)
277950
   
Hadju-Cheney syndrome AD 102500          
Multicentric carpal-tarsal osteolysis with and without nephropathy AD 166300          
28. Disorganized development of skeletal components group              
Cherubism AD 118400 4p16 SH3BP2 SH3 domain-binding protein 2 602104  
Fibrous dysplasia, polyostotic form SP 174800 20q13 GNAS1 Guanine nucleotide-binding protein, alpha-stimulating activity subunit 1 139320 Somatic mosaicism and imprinting phenomena; includes McCune-Albright syndrome
Progressive osseous heteroplasia AD 166350 20q13 GNAS1 Guanine nucleotide-binding protein, alpha-stimulating activity subunit 1 139320 Gene subject to imprinting
Gnathodiaphyseal dysplasia AD 166260 11p15.1-14.3 TMEM16E Transmembrane protein 16E 608662  
Multiple cartilaginous exostoses 1   AD 133700 8q23-24.1 EXT1 Exostosin-1 608177  
Multiple cartilaginous exostoses 2 AD 133701 11p12-11 EXT2 Exostosin-2 608210  
Multiple cartilaginous exostoses 3 AD 600209 19p        
Osteoglophonic dysplasia AD 166250 8p11  FGFR1 Fibroblast growth factor receptor 1 136350 See also Craniosynostosis syndromes in Group 30
Fibrodysplasia ossificans progressiva (FOP) AD, SP 135100 2q23-24 ACVR1 Activin A (BMP type 1) receptor 102576  
Carpotarsal osteochondromatosis AD 127820          
Cherubism with gingival fibromatosis (Ramon syndrome) AR 266270          
Dysplasia epiphysealis hemimelica (Trevor) SP 127800          
Enchondromatosis (Ollier) SP 166000         PTHR1 mutations found in a few cases only
Spondyloenchondrodysplasia (SPENCD) AR, AD? 271550         Includes SPENCD with spasticity and basal ganglia calcifications
Enchondromatosis with hemangiomata (Maffucci) SP 166000          
Genochondromatosis AD 137360          
Metachondromatosis AD 156250          
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria SP see 271550        
Dysspondyloenchondromatosis SP            
Cheiro-spondyloenchondromatosis SP            
29. Cleidocranial dysplasia Group              
Cleidocranial dysplasia AD 119600 6p21 RUNX2 Runt related transcription factor 2 600211  
CDAGS syndrome (craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, genital anomalies, skin eruption) AR 603116 22q12-13        
Yunis-Varon dysplasia AR 216340          
30. Craniosynostosis syndromes and other cranial ossification disorders              
Pfeiffer syndrome (FGFR1-related) AD 101600 8p12 FGFR1 Fibroblast growth factor receptor 1 136350 All have FGFR1 P252R mutation (phenotype generally milder than FGFR2-related Pfeiffer)
Apert syndrome AD 101200 10q26.12 FGFR2 Fibroblast growth factor receptor 2 176943  
Craniosynostosis with cutis gyrata (Beare-Stevenson) AD 123790 10q26.12 FGFR2 Fibroblast growth factor receptor 2 176943  
Crouzon syndrome AD 123500 10q26.12 FGFR2 Fibroblast growth factor receptor 2 176943  
Pfeiffer syndrome (FGFR2-related) AD 101600 10q26.12 FGFR2 Fibroblast growth factor receptor 2 176943 Includes Jackson-Weiss syndrome (MIM 123150) and Antley-Bixler variants caused by FGFR2 mutations (see below)
Crouzon-like craniosynostosis with acanthosis nigricans (Crouzonodermoskeletal syndrome) AD   4p16.3 FGFR3 Fibroblast growth factor receptor 3 134934 Defined by specific FGFR3 A391E mutation
Craniosynostosis Muenke type AD 602849 4p16.3 FGFR3 Fibroblast growth factor receptor 3 134934 FGFR3 P250R mutation
Antley-Bixler syndrome  AR 201750 7q11.23 POR Cytochrome P450 oxidoreductase 124015 Cases with FGFR2 mutations classified as Pfeiffer syndrome (MIM 207410)
Craniofrontonasal syndrome XLD 304110 Xq13.1 EFNB1 Ephrin B1 300035  
Craniosynostosis Boston type AD 604757 5q35.2 MSX2 MSX2 123101 Heterozygous P148H mutation in a single family
Saethre-Chotzen syndrome AD 101400 7p21.1 TWIST1 TWIST 601622  
Shprintzen-Goldberg syndrome AD 182212         Some affected individuals reported to have FBN1 mutations (MIM 134797)
Baller-Gerold syndrome AR 218600 8q24.3 RECQL4 RECQ Protein-like 4 603780 RECQL4 might not account for all cases of Baller-Gerold
Parietal foramina (isolated) AD 168500 11q11.2 ALX4 Aristaless-like 4 605420  
Parietal foramina (isolated) AD 168500 5q34-35 MSX2 Muscle segment homeobox 2 123101  
Carpenter syndrome AR 201000          
See also Cole-Carpenter syndrome in Group 24 and CDAGS syndrome in Group 29              
31. Dysostoses with predominant craniofacial involvement              
Mandibulo-facial dysostosis (Treacher-Collins, Franceschetti-Klein) AD 154500 5q32 TCOF1   606847  
Oral-facial-digital syndrome type I (OFD1) XLR 311200 Xp22.3 CXORF5   300170  
Weyer acrofacial (acrodental) dysostosis AD 193530 4p16 EVC1   604831  
Acrofacial dysostosis, Nager type AD/AR 154400          
Frontonasal dysplasia SP 136760          
Hemifacial microsomia SP/AD 164210         Includes Goldenhar syndrome and Oculo-Auriculo-Vertebral spectrum; probably genetically heterogeneous
Miller syndrome (postaxial acrofacial dysostosis) AR 263750          
See also Oral-facial-digital syndrome type IV in the Short Rib Dysplasias (Group 7)              
32. Dysostoses with predominant vertebral and costal involvement              
Currarino syndrome AD 176450 7q36 HLXB9 Homeobox gene HB9 142994  
Spondylocostal dysostosis type 1 (SCD1) AR 277300 19q13 Dll3 Delta-like 3 602768  
Spondylocostal dysostosis type 2 (SCD2) AR 608681 15q26 MESP2 Mesoderm posterior (expressed in) 2 605195  
Spondylocostal dysostosis type 3 (SCD3) AR 609713 7p22 LFNG Lunatic fringe 602576  
Spondylocostal dysostosis, dominant type AD           Includes previous spondylothoracic dysostosis, dominant type
Jarcho-Levin syndrome AR           Unlinked to Dll3 or MESP2; includes previous spondylothoracic dysostosis, recessive type
Cerebro-costo-mandibular syndrome (rib gap syndrome) AD/AR 117650          
Ischio-spinal dysostosis SP/AR            
Klippel-Feil anomaly with laryngeal malformation AD 148900          
See also Spondylocarpotarsal dysplasia in Group 26              
33. Patellar dysostoses              
Ischiopubic patellar dysplasia AD 147891 17q21-q22 TBX4  T-box gene 4 601719  
Nail-patella syndrome AD 161200 9q34.1 LMX1B LIM homeobox transcription factor 1 602575  
Genitopatellar syndrome AR? 606170          
Ear-patella-short stature syndrome (Meier-Gorlin) AR 224690          
               
34. Brachydactylies (with or without extraskeletal manifestations)              
Brachydactyly type A1   AD 112500 2q35-36 IHH  Indian Hedgehog 600726  
Brachydactyly type A1   AD   5q31        
Brachydactyly type A2 AD 112600  4q23 BMPR1B  Bone Morphogenetic Protein Receptor, 1B 603248  
Brachydactyly type A2 AD 112600         Not linked to BMRP1B
Brachydactyly type A3 AD 112700          
Brachydactyly type B AD 113000 9q22 ROR2 Receptor Tyrosine Kinase-like Orphan Receptor 2 602337  
Brachydactyly type B             Not linked to ROR2
Brachydactyly type C AD, AR 113100 20q11.2 GDF5 Growth and Differentiation Factor 5 601146 See also ASPED (group 14) and other GDF5 disorders
Brachydactyly type D AD 113200  2q31 HOXD13 Homeobox D13 142989  
Brachydactyly type D             Not linked to HOXD13
Brachydactyly type E AD 113300 2q31 HOXD13 Homeobox D13 142989  
Brachydactyly type E             Not linked to HOXD13
Feingold syndrome (microcephaly-oculo-digito-esophageal-duodenal syndrome) AD 164280 2p24.1 MYCN nMYC oncogene 164840  
Hand-Foot-Genital AD 140000 7p14.2 HOXA13 Homeobox A13 142959  
Keutel Syndrome AR 245150 12p13.1-12.3 MGP Matrix Gla protein 154870  
Albright Hereditary Osteodystrophy (AHO) AD 103580 20q13 GNAS1 Guanine nucleotide binding protein of adenylate cyclase – subunit 139320 See also Polyostotic fibrous dysplasia and Progressive osseous heteroplasia, Group 28
AHO-like syndrome (Brachydactyly-Mental retardation syndrome) SP 600430 2q37       Microdeletion syndrome
Rubinstein-Taybi syndrome AD 180849 16p13.3 CREBBP CREB-Binding Protein 600140  
22q13 EP300 E1A-Binding Protein, 300-KD 602700  
Catel-Manzke syndrome XLR? 302380          
Christian type brachydactyly AD 112450          
Coffin-Siris syndrome AR 135900          
Mononen type brachydactyly XLD? 301940          
Poland anomaly SP 173800          
See also Group 20 for other conditions with brachydactyly.              
35. Limb hypoplasia – reduction defects Group              
Acheiropodia AR 200500 7q36 LMBR1 Putative receptor protein 605522 Partial LMBR1 deletion affecting expression of Sonic Hedgehog (SHH) gene
De Lange Syndrome AD 122470 5p13.1 NIPBL Nipped-B-like 608667  
Fanconi anemia AR 227650 (several) (several)     Several complementation groups and genes
Holt-Oram syndrome AD 142900 12q24.1 TBX5 T-box gene 5 601620  
Okihiro syndrome (Duane – Radial Ray anomaly) AD 607323 20q13 SALL4 SAL-like 4 607343  
Roberts Syndrome AR 268300 8p21.1 ESCO2 Homolog of Establishment of Cohesion - 2 609353  
Tetra-amelia AR 273395 17q21 WNT3 Wingless-type MMTV integration site family, member 3 165330  
Ulnar-mammary syndrome AD 181450 12q24.1 TBX3 T-box gene 3 601621  
Ankyloblepharon-Ectodermal dysplasia-Cleft lip/palate (AEC) AD 106260 3q27 P63 (TP63) Tumor Protein p63 603273  
Ectrodactyly-ectodermal dysplasia cleft-palate syndrome Type 3 (EEC3) AD 604292 3q27 P63 (TP63) Tumor Protein p63 603273  
Ectrodactyly-ectodermal dysplasia cleft-palate syndrome type 1  (EEC1) AD 129900 7q11.2-12.3        
Ectrodactyly-ectodermal dysplasia cleft-palate syndrome type 2 (EEC2) AD 602077 Chr.19        
Ectrodactyly-ectodermal dysplasia-macular dystrophy syndrome (EEM) AR 225280 16q22 CDH3 Cadherin 3 114021  
Limb-mammary syndrome (including ADULT syndrome) AD 603273 3q27 P63 (TP63) Tumor Protein p63 603273  
Split Hand-Foot malformation, isolated form, type 4 (SHFM4) AD 605289 3q27 P63 (TP63) Tumor Protein p63 603273  
Split Hand-Foot malformation, isolated form, type 1 (SHFM1) AD 183600 7q21.3-22.1        
Split Hand-Foot Malformation, isolated form, type 2 (SHFM2) XL 313350 Xq26        
Split Hand-Foot malformation, isolated form, type 3 (SHFM3) AD 600095 10q24 Dactylin Dactylin 608071  
Split Hand-Foot malformation, isolated form, type 5 (SHFM5) AD 606708 2q31        
Split Hand-Foot malformation with tibial hypoplasia AD 119100          
Adams-Oliver Syndrome AD 100300          
Al-Awadi Raas-Rothschild limb-pelvis hypoplasia-aplasia AR 276820   WNT7a      
Femoral hypoplasia-Unusual facies Syndrome SP/AD? 134780         syndromic status uncertain
Femur-Fibula-Ulna Syndrome SP? 228200          
Fuhrmann Syndrome AR 228930   WNT7a      
Hanhart Syndrome (Hypoglossia-hypodactylia) AD 103300          
Scapulo-iliac dysplasia (Kosenow) AD 169550          
Thrombocytopenia-Absent Radius (TAR) AR?/AD? 274000          
See also CHILD in Group 20              
36. Polydactyly-Syndactyly-Triphalangism Group              
Preaxial Polydactyly type 1 (PPD1) AD 174400 7q36 SHH Sonic Hedgehog 600725 regulatory mutation
Preaxial Polydactyly type 1 (PPD1) AD 174400         some instances not linked to SHH
Preaxial Polydactyly type 2 (PPD2)/ Triphalangeal Thumb (TPT) AD 174500 7q36 SHH Sonic Hedgehog 600725 regulatory mutation
Preaxial Polydactyly type 2 (PPD2)/ Triphalangeal Thumb (TPT) AD 174500         some instances not linked to SHH
Preaxial Polydactyly type 3(PPD3) AD 174600          
Preaxial Polydactyly type 4 (PPD4) AD 174700 7p13 GLI3 Gli-Kruppel Family Member 3 165240  
Greig Cephalopolysyndactyly Syndrome AD 175700 7p13 GLI3 Gli-Kruppel Family Member 3 165240  
Pallister-Hall syndrome AD 146510 7p13 GLI3 Gli-Kruppel Family Member 3 165240  
Fibulin1 - associated complex synpolydactyly AD 608180 22q13.3 FBLN1 Fibulin 1 135820  
Synpolydactyly AD 186000 2q31 HOXD13 Homeobox D13 142989  
Syndactyly type 3 AD 186100 6q22-24 CX43 Connexin 43 121014  
Townes-Brocks syndrome (Renal-Ear-Anal-Radial syndrome) AD 107480 16q12.1 SALL1 SAL-like 1 602218  
Lacrimo-Auriculo-Dento-Digital syndrome (LADD) AD 149730 10q26.12 FGFR2 Fibroblast growth factor receptor 2 176943  
      4p16.3 FGFR3 Fibroblast growth factor receptor 3 134934  
      5p13-p12 FGF10 Fibroblast growth factor 10 602115  
Acrocallosal syndrome AR 200990 7p13        
Acro-pectoral syndrome AD 605967 7q36        
Acro-pectoro-vertebral dysplasia (F-syndrome) AD 102510 2q36        
Mirror-image polydactyly of hands and feet (Laurin-Sandrow syndrome) AD 135750 14q13        
Mirror-image polydactyly of feet with tibial hypoplasia AD 188770          
Syndactyly type 1 AD 185900 2q34-36        
Postaxial Polydactyly     Several loci       Heterogeneous
37. Defects in joint formation and synostoses              
Multiple synostoses syndrome type 1 AD 186500 17q22 NOG Noggin 602991 Includes symphalangism – brachydactyly – deafness syndrome
Multiple synostoses syndrome type 2 AD 186500 20q11.2 GDF5 Growth and Differentiation Factor 5 601146  
Proximal symphalangism type 1 AD 185800 17q22 NOG Noggin 602991  
Proximal symphalangism type 2 AD 185800 20q11.2 GDF5 Growth and Differentiation Factor 5 601146  
Radio-ulnar synostosis with amegakaryocytic thrombocytopenia AD 605432 7p15-14.2 HOXA11 Homeobox A11 142958  
See also Spondylo-Carpal-Tarsal dysplasia (Group 6); Mesomelic Dysplasia with Acral Synostoses (Group 16) ; Antley Bixler syndrome (Group 30)              
               
               
               
             
             
Free Web Counter
hit Counter