Learn About Geleophysic Dysplasia

What is the definition of Geleophysic Dysplasia?

Geleophysic dysplasia is an inherited condition that affects many parts of the body. It is characterized by abnormalities involving the bones, joints, heart, and skin.

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What are the causes of Geleophysic Dysplasia?

Geleophysic dysplasia results from mutations in the ADAMTSL2 gene. This gene provides instructions for making a protein whose function is unclear. The protein is found in the extracellular matrix, which is the intricate lattice of proteins and other molecules that forms in the spaces between cells. Studies suggest that the ADAMTSL2 protein may play a role in the microfibrillar network, which is an organized clustering of thread-like filaments (called microfibrils) in the extracellular matrix. This network provides strength and flexibility to tissues throughout the body.

How prevalent is Geleophysic Dysplasia?

Geleophysic dysplasia is a rare disorder whose prevalence is unknown. More than 30 affected individuals have been reported.

Is Geleophysic Dysplasia an inherited disorder?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

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Who are the sources who wrote this article ?

Published Date: December 01, 2009Published By: National Institutes of Health

What are the Latest Advances for Geleophysic Dysplasia?

There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.