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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Metatropic dysplasia


Other Names for this Disease
  • Metatropic dwarfism
  • Metatropic dysplasia, nonlethal dominant
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Your Question

I was diagnosed with a rare disease as a child. Recently, at age 21, I learned that I have metatropic dwarfism. My doctors haven't been able to give me much information. Can you tell me more about this condition, including treatment options?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is metatropic dwarfism?

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

What are the symptoms of metatropic dwarfism?

Metatrophic dwarfism is characterized by abnormal skeletal development. Infants typically present with a long trunk with disproportionately short extremities. Length is usually normal. The chest may be narrow and a tail-like appendage may be present at the level of the coccyx (tailbone). The joints are prominent with decreased mobility. The fingers and toes are long. The proportions change during childhood with relative shortening of the trunk due to progressive kyphosis and relatively long extremities. Chest deformity and flexion contractures of major joints is common. Hyperextensibility of the fingers may also be present. Intellectual development is usually normal.[3] 

Radiologic features include severe platyspondyly (flattened bones of the spine), severe metaphyseal enlargement, and shortening of the long bones.[2]

Last updated: 1/12/2010

What causes metatropic dwarfism?

Recent evidence suggests that metatropic dwarfism is caused by mutations in the TRPV4 gene on chromosome 12q24.1.[2] Inheritance may be autosomal recessive or autosomal dominant.[2][3]

Individuals affected by metatropic dwarfism may benefit from genetic counseling. Information about how to locate a genetics professional can be found within the Services section on the resources page.

Last updated: 1/12/2010

How might metatropic dwarfism be treated?

Treatment of metatropic dwarfism is symptomatic and supportive. Physiotherapy and occupational therapy can help with prevention of progressive joint disease. Bracing may be used for kyphosis with adjustment and/or replacement as the child grows. This type of treatment should be maintained until skeletal maturity is reached or until spinal fusion is feasible. Spinal fusion is used to prevent damage to the cervical part of the spinal cord.[3]

 

Last updated: 1/12/2010

References