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Other Names for this Disease
- Metatropic dwarfism
- Metatropic dysplasia, nonlethal dominant
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Metatropic dwarfism is a severe skeletal dysplasia characterized by extremely small stature with short arms and legs. Other characteristics of this disorder are a narrow thorax, short ribs, and kyphoscoliosis (backward and sideways curvature of the spinal column) which develops into short trunk dwarfism. This condition, caused by mutations in the TRPV4 gene, may be inherited in either an autosomal dominant or autosomal recessive manner. Treatment is symptomatic and supportive.
Last updated: 1/12/2010
- Metatropic Dysplasia I. National Organization for Rare Disorders (NORD). 2007; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Metatropic%20Dysplasia%20I. Accessed 1/12/2010.
- Metatropic Dysplasia. Online Mendelian Inheritance in Man (OMIM). 2009; http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156530. Accessed 1/12/2010.
- Sillence D, Kozlowski K. Metatropic Dysplasia. Orphanet. 2004; http://www.orpha.net/data/patho/GB/uk-MetatropicDysplasia.pdf. Accessed 1/12/2010.
- Genetics Home Reference (GHR) contains information on Metatropic dysplasia. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
In Depth Information
- The Online Mendelian Inheritance in Man (OMIM) is an 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 Metatropic dysplasia. Click on the link to view a sample search on this topic.