Metatropic dysplasia

What causes metatropic dysplasia?

Metatropic dysplasia is a genetic disorder caused by mutations in the TRPV4 gene. Studies suggest that the TRPV4 gene codes for a protein that plays a role in a number of different functions in the body including the development of the bones and cartilage.

Last updated on 05-01-20

What is metatropic dysplasia?

Metatropic dysplasia is a skeletal disorder characterized by short stature, shortened arms and legs, and a long narrow chest. The signs and symptoms of this condition can vary from life threatening to mild. Signs and symptoms may include worsening abnormal curvature of the spine (scoliosis and kyphosis), flattening of the bones of the spine (platyspondyly), and restriction of certain joints in the body. Some individuals are additionally born with an elongated tailbone known as a coccygeal tail. Metatropic dysplasia is caused by mutations in the TRPV4 gene and is inherited in an autosomal dominant manner. Although there is no specific treatment or cure, there can be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options based on each person’s symptoms.

Last updated on 05-01-20

How might metatropic dysplasia be treated?

Treatment of this condition focuses on managing the skeletal concerns and maintaining the functioning of the lungs. Treatment may include the use of braces, physical therapy, and surgical correction of skeletal abnormalities.

Last updated on 05-01-20

Name: The MAGIC Foundation 4200 Cantera Dr. #106
Warrenville, IL, 60555, United States
Phone: 630-836-8200 Toll Free: 800-362-4423 Fax : 630-836-8181 Email: contactus@magicfoundation.org Url: https://www.magicfoundation.org/
Name: Little People of America, Inc. 617 Broadway #518
Sonoma, CA, 95476, United States
Phone: +1-714-368-3689 Toll Free: 1-888-572-2001 Fax : +1-707-721-1896 Email: info@lpaonline.org Url: https://www.lpaonline.org/
Name: Greenberg Center for Skeletal Dysplasias Johns Hopkins University Institute of Genetic Medicine
600 North Wolfe Street Blalock 1008
Baltimore, MD, 21287, United States
Phone: 410-614-0977 Email: deedee@jhmi.edu Url: http://www.hopkinsmedicine.org/institute-genetic-medicine/patient-care/genetics-clinic/about/greenberg-center-skeletal-dysplasia/
Name: European Skeletal Dysplasia Network Institute of Genetic Medicine Newcastle University
International Centre for Life Central Parkway New Castle upon Tyne
NE1 3BZ, United Kingdom
Email: info@esdn.org Url: http://www.esdn.org/eug/Home

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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