Learn About Beare-Stevenson Cutis Gyrata Syndrome

What is the definition of Beare-Stevenson Cutis Gyrata Syndrome?

Beare-Stevenson cutis gyrata syndrome is a genetic disorder that typically features skin abnormalities and the premature fusion of certain bones of the skull (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.

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What are the causes of Beare-Stevenson Cutis Gyrata Syndrome?

Mutations in the FGFR2 gene cause Beare-Stevenson cutis gyrata syndrome. This gene produces a protein called fibroblast growth factor receptor 2, which plays an important role in signaling a cell to respond to its environment, perhaps by dividing or maturing. A mutation in the FGFR2 gene alters the protein and promotes prolonged signaling, which is thought to interfere with skeletal and skin development.

How prevalent is Beare-Stevenson Cutis Gyrata Syndrome?

Beare-Stevenson cutis gyrata syndrome is a rare genetic disorder; its incidence is unknown. Approximately 25 people with this condition have been reported worldwide.

Is Beare-Stevenson Cutis Gyrata 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. All reported cases have resulted from new mutations in the gene, and occurred in people with no history of the disorder in their family.

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Who are the sources who wrote this article ?

Published Date: June 01, 2020Published By: National Institutes of Health

What are the Latest Advances for Beare-Stevenson Cutis Gyrata 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.