Muenke Syndrome

What is Muenke syndrome?

Muenke syndrome is a condition characterised by the premature closure of certain bones of the skull (craniosynostosis) during development, which affects the shape of the head and face.

The primary feature of this disorder is the premature fusion of skull bones along the coronal suture, the growth line which goes over the head from ear to ear. Other parts of the skull are often abnormally formed as well. These changes can result in an abnormally shaped head, wide-set eyes, and flattened cheekbones. People with Muenke syndrome may also have mild abnormalities of the hands or feet, and hearing loss has been observed in some cases. About 5 percent of affected individuals have an enlarged head (macrocephaly). Most people with this condition have normal intellect, but learning disabilities are possible.

The signs and symptoms of Muenke syndrome vary among affected people, and some findings overlap with those seen in other craniosynostosis syndromes. Between 6 percent and 7 percent of people with the gene mutation associated with Muenke syndrome do not have any of the characteristic features of the disorder, such as premature closure of the coronal suture.
How common is Muenke syndrome?

The incidence of Muenke syndrome has not been determined, but this disorder is likely the most common craniosynostosis syndrome.

What genes are related to Muenke syndrome?

Mutations in the FGFR3 gene cause Muenke syndrome.

The protein made by the FGFR3 gene is a receptor that plays a role in the development and maintenance of bone and brain tissue. Mutations in this gene result in an abnormal receptor that binds more readily to molecules outside the cell. This overactive receptor interferes with normal bone growth, allowing the bones of the skull to fuse before they should.

How do people inherit Muenke syndrome?

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.

In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family.

What other names do people use for Muenke syndrome?

* Adelaide-type craniosynostosis
* FGFR3-associated coronal synostosis
* Muenke nonsyndromic coronal craniosynostosis