Learn About Bosma Arhinia Microphthalmia Syndrome

What is the definition of Bosma Arhinia Microphthalmia Syndrome?

Bosma arhinia microphthalmia syndrome (BAMS) is a rare condition characterized by abnormalities of the nose and eyes and problems with puberty.

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What are the causes of Bosma Arhinia Microphthalmia Syndrome?

BAMS is usually caused by mutations in the SMCHD1 gene. Other, unknown genes may be rare causes of the condition.

How prevalent is Bosma Arhinia Microphthalmia Syndrome?

BAMS is a very rare condition with an unknown prevalence. Fewer than 100 cases of the condition have been described in the medical literature. BAMS has been found in several different populations.

Is Bosma Arhinia Microphthalmia Syndrome an inherited disorder?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered SMCHD1 gene in each cell is sufficient to cause the disorder.

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Who are the sources who wrote this article ?

Published Date: July 01, 2017Published By: National Institutes of Health

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