Learn About Weissenbacher-Zweymuller Syndrome

What is the definition of Weissenbacher-Zweymuller Syndrome?

Weissenbacher-Zweymüller syndrome is a condition that affects bone growth. It is characterized by skeletal abnormalities, hearing loss, and distinctive facial features. The features of this condition significantly overlap those of two similar conditions, otospondylomegaepiphyseal dysplasia (OSMED) and Stickler syndrome type III. All of these conditions are caused by mutations in the same gene, and in some cases, it can be difficult to tell them apart. Some researchers believe they represent a single disorder with a range of signs and symptoms.

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What are the causes of Weissenbacher-Zweymuller Syndrome?

Weissenbacher-Zweymüller syndrome is caused by mutations in the COL11A2 gene. This gene provides instructions for making one component of type XI collagen, which is a complex molecule that gives structure and strength to the connective tissues that support the body's joints and organs. Type XI collagen is found in cartilage, a tough but flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. Type XI collagen is also part of the inner ear and the nucleus pulposus, which is the center portion of the discs between vertebrae.

How prevalent is Weissenbacher-Zweymuller Syndrome?

Weissenbacher-Zweymüller syndrome is very rare; only a few affected families worldwide have been described in the medical literature.

Is Weissenbacher-Zweymuller Syndrome an inherited disorder?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

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Who are the sources who wrote this article ?

Published Date: May 01, 2016Published By: National Institutes of Health

What are the Latest Advances for Weissenbacher-Zweymuller Syndrome?

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.