Other Names for this Disease
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club feet); external genitalia that do not look clearly male or clearly female (ambiguous genitalia); distinctive facial features (including a small chin, prominent eyes, flat face, a large head compared to their body size); a particular group of physical features, called Pierre-Robin sequence; and other abnormalities. It is caused by mutations in the SOX9 gene and is inherited in an autosomal dominant pattern, although most cases result from a new mutation in the affected individual. Treatment typically includes multiple surgeries to correct some of the above-mentioned abnormalities. When affected individuals have features of this disorder but do not have bowed limbs, they are said to have acampomelic campomelic dysplasia.Campomelic dysplasia is a severe disorder that affects the development of the skeleton and reproductive system. This condition is often life-threatening in the newborn period. Affected individuals are typically born with bowing of the long bones in the legs and may also have bowing in the arms; short legs; dislocated hips; underdeveloped shoulder blades; bone abnormalities in the neck; feet that are abnormally rotated (
Last updated: 12/29/2010
- Campomelic dysplasia. Genetics Home Reference. May 2009; http://ghr.nlm.nih.gov/condition/campomelic-dysplasia. Accessed 12/29/2010.
- Sheila Unger, Gerd Scherer, Andrea Superti-Furga. Campomelic dysplasia. GeneReviews. July 31, 2008; http://www.ncbi.nlm.nih.gov/books/NBK1760/#campo-dysp.Management. Accessed 12/29/2010.
- Genetics Home Reference (GHR) contains information on Campomelic dysplasia. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Campomelic dysplasia. Click on the link to view a sample search on this topic.