Detailed Information on Muenke Syndrome

Muenke Syndrome, also known as FGFR3-related craniosynostosis. Muenke syndrome is an inherited condition characterized by the early closure of certain bones of the skull (coronal synostosis), which affects the shape of the head and face. Many people with this disorder have a 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 may be malformed as well. These changes can result in an abnormally shaped head, wide-set eyes, and flattened cheekbones. Muenke syndrome occurs in about 1 in 30,000 newborns.

Most people with this condition have normal intellectual, but developmental impediment and learning disabilities are possible. Some have an enlarged head (macrocephaly). The signs and symptoms of Muenke syndrome vary among affected people, and some findings overlap with those seen in other craniosynostosis syndromes. A single mutation in the FGFR3 gene causes this 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 head to mingle before they should. Most people with this condition have normal intellect, but learning disabilities are common. These signs and symptoms vary between people, and some findings overlap with those seen in other craniosynostosis syndromes. Children with Muenke syndrome and craniosynostosis are referred to a craniofacial clinic with experience in pediatrics. Adults with Muenke syndrome should be referred to a medical geneticist and genetic counselor for assessment and genetic counseling.

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