Print friendly version
Other Names for this Disease
- Metatropic dwarfism
- Metatropic dysplasia, nonlethal dominant
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.
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.
- Metatropic Dysplasia I. National Organization for Rare Disorders (NORD). http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Metatropic%20Dysplasia%20I. Accessed January 12, 2010.
- Metatropic Dysplasia. Online Mendelian Inheritance in Man (OMIM). http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156530. Accessed January 12, 2010.
- Sillence D, Kozlowski K. Metatropic Dysplasia. Orphanet. http://www.orpha.net/data/patho/GB/uk-MetatropicDysplasia.pdf. Accessed January 12, 2010.
On this page
- Genetics Home Reference (GHR) contains information on Metatropic dysplasia. Click on the link to go to GHR and review the information.
- 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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- 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.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Metatropic dysplasia. Click on the link to go to OMIM and review these resources.