The FGFR3 gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. This mutation 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.As stated by researchers at the University of Washington, Muenke syndrome is inherited in an autosomal dominant manner with incomplete penetrance and variable expressivity.”  Prenatal diagnosis for pregnancies at increased risk is possible if the defining mutation has been identified in the family (Agochukwu et.al. 2006). According to the article Craniosynostosis: Molecular Genetics, penetrance is higher in females (87%) than in males (76%). Muenke syndrome is estimated to account for 25%-30% of all genetic causes of craniosynostosis according to the Journal of Anatomy. Diagnosis
The diagnosis of Muenke syndrome is suspected bases on abnormal skull shape and a diagnosis of coronal craniosynostosis. In 2006, Agochukwu and her colleagues concluded that “A distinct Muenke syndrome phenotype includes: uni or bilateral coronal synostosis, midface hypoplasia, broad toes, and brachydactyly.”  Due to phenotypic overlap and/or mild phenotypes, clinical differentiation of this syndrome may be difficult. The suspected diagnosis is confirmed by a blood test to check for gene mutation. To establish the extent of disease in an individual diagnosed with Muenke syndrome, various evaluations are recommended. Treatment
The treatment of Muenke syndrome is focused on the correction of the abnormal skull shape and mirrors the treatment of coronal craniosynostosis.
The abnormal growth patterns continue throughout the growing years; therefore, intervention, accurate diagnosis, and a customized, expertly carried-out treatment plan should be a primary concern. Although the timing of surgery can be highly individualized, surgical correction of the bicoronal craniosynostosis is most often done between 6 and 12 months of age. Surgery is usually performed through a scalp incision that lies concealed within the hair of the head. Your craniofacial surgeon will work in concert with a pediatric neurosurgeon in order to safely remove the bones of the skull. Then, the craniofacial surgeon reshapes and repositions those bones to give a more normal skull shape. References
Rannan-Eliya SV, Taylor IB, De Heer IM, Van Den Ouweland AM, Wall SA, Wilkie AO (August 2004). "Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis". Hum. Genet. 115 (3): 200–7. doi:10.1007/s00439-004-1151-5. PMID 15241680. S2CID 24791706. Agochukwu NB, Doherty ES, Muenke M (December 7, 2010). "Muenke Syndrome". Gene Reviews. PMID 20301588. Hughes J, Nevin NC, Morrison PJ (2001). "Familial craniosynostosis due to Pro250Arg mutation in the fibroblast growth factor receptor 3 gene". Ulster Med J. 70 (70): 47–50. PMC 2449219. PMID 11428324. Morris-Kay GM, Wilkie AO (2005). "Growth of the normal skull vault and its alteration in craniosynostosis: Insights from human genetics and experimental studies". Journal of Anatomy. 207 (5): 637–653. doi:10.1111/j.1469-7580.2005.00475.x. PMC 1571561. PMID 16313397. Solomon BD, Muenke M (2010). "Craniosynostosis: Molecular Genetics". Principles of Diagnosis and Treatment. 19: 89–97. External links
National Institute of Healths Reference
GeneReview/NIH/UW entry on Muenke Syndrome