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Metatropic dysplasia

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.[1] This condition, caused by mutations in the TRPV4 gene, may be inherited in either an autosomal dominant or autosomal recessive manner.[2][3] Treatment is symptomatic and supportive.[1][3]
Last updated: 1/12/2010


  1. Metatropic Dysplasia I. National Organization for Rare Disorders (NORD). 2007; Accessed 1/12/2010.
  2. Metatropic Dysplasia. Online Mendelian Inheritance in Man (OMIM). 2009; Accessed 1/12/2010.
  3. Sillence D, Kozlowski K. Metatropic Dysplasia. Orphanet. 2004; Accessed 1/12/2010.
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Basic Information

  • 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.