Muenke Syndrome

What causes Muenke syndrome?

Muenke syndrome is caused by mutations in the FGFR3 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. A single mutation in the FGFR3 gene causes the FGFR3 protein to be overly active, which interferes with normal bone growth and allows the bones of the skull to fuse before they should.

Last updated on 05-01-20

How might Muenke syndrome be treated?

Children with Muenke syndrome are best managed by a pediatric craniofacial clinic where a team of health care professionals, including a craniofacial surgeon and neurosurgeon, medical geneticist, ophthalmologist, otolaryngologist, pediatrician, radiologist, psychologist, dentist, audiologist, speech therapist, and social worker may work to address their individuals needs. Depending on severity, the first craniosynostosis repair may be performed between ages three and six months. Early surgery may reduce the risk for complications. Follow-up surgeries and/or other medical procedures may be needed.

Last updated on 05-01-20

Name: Headlines Craniofacial Support PO Box 13595 LINLITHGOW
EH49 9BD
United Kingdom
Phone: +44 (0)7500 778965 Email: Url:

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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