Muenke syndrome

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Muenke syndrome is a rare genetic disorder characterized by craniosynostosis, or premature closure of certain bones in the skull. This affects the shape of the face and head. Muenke syndrome is typically detected during infancy.
Other distinctive features of Muenke syndrome include wide-set eyes, flattened cheekbones, and a large, abnormally shaped head. Some people with Muenke syndrome also have hearing loss and deformities of the hands and feet.
Muenke syndrome is caused by a mutation or defect in the FGFR3 gene. This gene provides instructions for making the fibroblast growth factor receptor 3 protein, which is essential to normal development and maintenance of the brain and bones. In Muenke syndrome, this protein is overactive, causing abnormal bone growth and development.
Muenke syndrome is inherited, or passed down from parent to child, as an autosomal dominant trait. This means that only one copy of the defective gene must be inherited for the disease to appear. In some cases, Muenke syndrome is present in individuals with no family history of the disorder. In these cases, the disease occurs as a result of a spontaneous genetic mutation in the sperm or eggs cells or in the developing embryo. The worldwide incidence of Muenke syndrome is about one in 30,000 newborn infants. No gender, race, or ethnic group appears to be affected more than another.
While there is currently no known cure for Muenke syndrome, surgical repair of craniosynostosis can decrease the risk of complications such as hydrocephalus or fluid surrounding the brain. If managed appropriately, patients with Muenke syndrome may have a normal life span.

Related Terms

Adelaide-type craniosynostosis, autosomal dominant inheritance, brachycephaly, brachydactyly, carpal fusion, developmental delay, FGFR3 gene, fibroblast growth factor receptor-3 gene, inherited genetic disease, intellectual disability, macrocephaly, Muenke nonsyndromic coronal craniosynostosis, ocular hypertelorism, plagiocephaly, proptosis, ptosis, tarsal fusion, turribrachycephaly.