Links to other relevant sites

dReams - Dynamic Radiological Electronic Atlas of Malformation Syndromes and Skeletal Dysplasias

dREAMS is a resource for, amongst others: radiologists, clinicians, students, molecular geneticists and researchers. It has applications in diagnostics, teaching and research. It will also be of interest to those involved in the development of other clinical databases.

International Skeletal Dysplasia Registry

The International Skeletal Dysplasia Registry at Cedars-Sinai Medical Center is a referral center for research into the diagnosis, management, and aetiology of the skeletal dysplasias. 

International Skeletal Dysplasia Society

An independent scientific society devoted to the scientific progress in the field of skeletal dysplasias and dysostoses. The ISDS curates the "Nosology of Genetic Skeletal Disorders", a list of skeletal conditions that is revised periodically. The site offers downloads of scientific literature.


The Skeletome Thesaurus Project Website. A project which aims to transform the International Nosology of Constitutional Disorders of Bone into an online knowledgebase.

On line Mendelian Inheritance in Man

The OMIM database is a catalogue of human genes and genetic disorders authored and edited by Dr. Victor A. McKusick and his colleagues at Johns Hopkins and elsewhere and developed for the World Wide Web by the National Center for Biotechnology Information. The database contains textual information, pictures, and reference information. It also contains copious links to NCBI's Entrez database of MEDLINE articles and sequence information. 

The Greenberg Center for Skeletal Dysplasias at Johns Hopkins

The Kathryn and Alan C. Greenberg Center for Skeletal Dysplasias is dedicated to the medical care and education of persons with skeletal dysplasias, and to the clinical and laboratory investigation into these conditions. Toward this end, the Center brings together a multidisciplinary team of doctors and investigators dedicated to improving the quality of life for persons of short stature, and furthering basic scientific knowledge about the many causes of dwarfism.


The Pathophysiology of the Cartilage Growth Plate - EuroGrow - project aims to determine the molecular, cell and extracellular matrix pathology of a number of distinct chondrodysplasia phenotypes, which result from mutations in a variety of different gene products that are important for normal bone development.


Based at the Centre for Pediatrics and Adolescent Medicine and the Institute of Human Genetics of the University of Freiburg, Germany, Skeldys provides information, diagnostic services and courses for Skeletal Dysplasias.

Dyscerne - A European Network of Centres of Expertise for Dysmorphology

Dyscerne is a European Commission funded project which aims to improve the diagnosis, clinical management and information dissemination for rare dysmorphic diseases.