Children's Hospital Colorado
Craniofacial

Muenke Syndrome

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What is Muenke syndrome?

Muenke syndrome is a condition characterized by abnormalities of the skull. Patients with Muenke syndrome have great variability in presentation. The following conditions may or may not be associated with an individual with Muenke syndrome: developmental delay, limb abnormalities or high arched palate.

Who gets Muenke syndrome?

Muenke syndrome is a rare congenital condition that occurs in 1 of 30,000 newborn babies with a 1:1 male to female ratio. It can be inherited in an autosomal dominant fashion from a parent with Muenke syndrome, or be due to a fresh genetic mutation. A parent with Muenke syndrome has a 50% chance of passing the condition to a child. The mutation occurs in the fibroblast growth factor receptor 3 (FGFR3) gene.

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Stig Somme, MD

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Annie Kulungowski, MD

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