Muenke Syndrome

Also known as: craniosynostosis, syndromic craniosynostosis.

What is Muenke syndrome?

When an infant is born, the bones that make up the skull are typically not joined together fully. Muenke syndrome is a condition that results in one or more of these bones closing early (called craniosynostosis) before birth. The effects of this vary widely even within families.

What causes Muenke syndrome?

Muenke syndrome is a genetic form of craniosynostosis which means it’s caused by a change (mutation) in a gene (FGFR3) that affects bone growth. Muenke syndrome can occur for the first time in a family or can be inherited from a parent who has Muenke syndrome. A person who has the condition will have a 50% chance of passing the condition to their children.

What are the symptoms of Muenke syndrome?

The prematurely joined skull bones lead to an abnormal/asymmetrical head or face shape with wide-set eyes (which may droop or bulge) and flattened cheekbones. The head may be large (megacephaly) or shaped like a “tower” or wide and flat. The pressure inside the skull may increase. About 30% of infants have developmental delay and some have problems with sight and hearing.

What are Muenke syndrome care options?

There is no single treatment for Muenke syndrome. Craniosynotosis may require surgical correction. Other treatment is focused on managing specific symptoms as they occur.

Reviewed by: Mislen S Bauer, MD

This page was last updated on: July 06, 2021 01:05 PM