Muenke syndrome is a genetic form of craniosynostosis, a deformity of the skull and face due to the premature fusing of one or more skull sutures. Apparent at birth, it is a rare condition, occurring in 1 of every 30,000 newborns. It is caused by mutations in the FGFR3 gene, which is part of a family of genes that play a role in embryo head development.


In Muenke syndrome, craniosynostosis typically results in an increased vertical height of the skull where one or both coronal sutures, those that run from ear to ear over top of the head and meet at the soft spot in the middle, are fused. Additionally, midface hypoplasia, or the decreased growth of the midface, may be present. Wide-set eyes, known as hypertelorism, is also common.

Other symptoms of Muenke syndrome include:

  • Mild abnormalities of the hands or feet
  • Hearing loss
  • Developmental delay
  • Learning disabilities

The abnormalities in the upper face and eyes of children with Muenke syndrome may be similar to patients with other forms of syndromic craniosynostosis, but other forms of craniosynostosis typically do not exhibit midface hypoplasia.


Typically, craniosynostosis is diagnosed first based on the abnormal skull shape of the child at birth. A blood test can then confirm Muenke syndrome. We recommend that all children with coronal craniosynostosis see our geneticist to be tested for Muenke syndrome and other genetic forms of craniosynostosis.


The treatment of Muenke syndrome is similar to the surgical treatment of other forms of craniosynostosis and involves several members of the North Carolina Cleft and Craniofacial Center team. Our craniofacial surgeon works with our pediatric neurosurgeon to safely remove the bones of the skull. Then, the craniofacial surgeon reshapes those bones to create a normal skull shape.

The timing of surgery is determined by your child’s specific needs, though it is usually done between six months and one year of age.

The treatment of Muenke syndrome is dependent upon both functional and appearance-related needs and should be addressed immediately after your child is born. Your child should be treated at a medical center that includes the pediatric specialists across the many clinical areas your child may need, which is provided by the North Carolina Cleft and Craniofacial Center team.