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Metatropic dysplasia
Other Names for this Disease
- Metatropic dwarfism
- Metatropic dysplasia, nonlethal dominant
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Overview
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]
References
- 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.
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General Information
- 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.