Muenke syndrome

Muenke syndrome, also known as FGFR3-related craniosynostosis, is a condition in which certain skull bones fuse prematurely during development, altering the shape of the head and face; it occurs in about 1 in 30,000 newborns and accounts for an estimated 8 percent of craniosynostosis cases, and was first described by Maximilian Muenke. It results from a specific mutation in the FGFR3 gene that makes the FGFR3 protein overactive, interfering with normal bone development and causing early fusion of the skull bones, typically along the coronal suture; the mutation usually arises new and is inherited in an autosomal dominant pattern, giving an affected parent child a 50 percent chance of inheriting it. Patients commonly have an abnormal head shape, wide-set eyes, low-set ears and flattened cheekbones, and 95 percent experience mild to moderate hearing loss, though most retain normal intellectual function even as some face developmental delays.