Skeletal Dysplasias and Dysostoses: Links

  The International Skeletal Dysplasia Society (ISDS) ( The ISDS Society promotes scientific progress in the field of skeletal dysplasias and dysostoses as well as advances in medical, orthopedic, surgical, and psychological care of individuals affected by skeletal dysplasias and dysostoses. Members have access to an email group for diagnostic review and discussion.
  The European Skeletal Dysplasia Network (ESDN) ( A Europe-wide network of laboratories ( Manchester, Newcastle, Gent, Freiburg, Paris, Lausanne, Oulu) offering diagnostic laboratory confirmation of genetic disorders of the skeleton. Includes a unique clinical and radiologic expert network for on-line clinical-radiographic diagnosis review and help before routing samples to the laboratory. Most ESDN collaborators are ISDS members.
  The Skeletal Dysplasia Registry at Cedars-Sinai Los Angeles Large skeletal dysplasia center in the USA (founded by Dr. D.L.Rimoin and Dr. R. Lachman; today Dr. D. Cohn, Dr. W. Wilcox, Dr. D. Krakow and coworkers; Los Angeles) with strong research interest (clinical, radiographic and molecular). Designed to offer diagnostic help for professionals rather than for medical laymen seeking information.
  Skeletal Dysplasia and Growth Disorders in Lasuanne, Switzerland  A large clinical, diagnostic and research unit at the University Hospital in Lausanne, Switzerland (Prof A. Superti-Furga, PD Dr. L. Bonafé, PD Dr. Sheila Unger, Dr. B. Campos-Xavier, Dr. L. Mittaz-Crettol, Dr. E. Dikoglu and several others). Clinical evaluation and management, diagnostic laboratory, and research facilities from cell culture to next generation sequencing.
  The Freiburg Growth and Skeletal Dysplasia Centre  Large clinical and research centre in southern Germany (Freiburg University Children's Hospital; Prof. Zabel, Dr. Lausch). Endocrinological expertise present (Prof. K.O.Schwab). Diagnostic laboratory (Dr. Ekkehart Lausch).
  The Greenberg Center for Skeletal Dysplasias at Johns Hopkins University Another dedicated skeletal dysplasia center. Contains information on more common types of skeletal dysplasias, links and addresses. The Greenberg Center is lead by Dr. Hoover-Fong.
  Online Mendelian Inheritance in Man (OMIM, "McKusick catalog") Frequently updated and complete reference for genetic and molecular aspects. Less useful for medical laypersons.
  Diagnostic Checklist for Skeletal Dysplasias and Malformations after Pregnancy Interruption or Fetal/Neonatal Demise Help in determining which materials and studies should be obtained after pregnancy interruption or fetal or neonatal death with a diagnostic suspicion of a skeletal dysplasia or malformation syndrome
   Verein Kleiner Menschen der Schweiz (VKM)  (Swiss Little People Association) Langackerstrasse 10, CH-6330 Cham, Schweiz, Tel +41-41-780-7810
  Schweizerische Vereinigung Osteogenesis Imperfecta (SVOI) (Swiss OI Association) Linckweg 2, Postfach CH-3052 Zollikofen, Schweiz Tel +41-41-340-8774