Muenke syndrome is a condition characterized by the premature closure of the coronal suture of the skull (coronal craniosynostosis) during development. This affects the shape of the head and face. Other variable features include abnormalities of the hands or feet, hearing loss and developmental delay. Muenke syndrome is caused by mutations in the FGFR3 gene. It is inherited in an autosomal dominant pattern.

FGFR3 genemutation do not have any of the characteristic features of the disorder.

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.

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.