Muenke syndrome
Pronunciation: MOON-keh
A genetic disorder causing craniosynostosis, typically affecting the coronal sutures.
Full Definition
Muenke syndrome is an autosomal dominant craniosynostosis syndrome caused by a specific mutation in the FGFR3 gene (Pro250Arg). It is characterized by premature fusion of one or both coronal sutures, leading to brachycephaly or anterior plagiocephaly. Unlike other syndromic craniosynostoses, Muenke syndrome typically has minimal facial involvement and normal cognitive development. However, patients may experience hearing loss, developmental delays, and require surgical intervention for cranial vault expansion. The condition accounts for approximately 8% of all craniosynostosis cases and has highly variable expression, even within families.
Usage
Usage note: Named after geneticist Maximilian Muenke; capitalize as it is an eponym.
In Context
- "Genetic testing confirmed Muenke syndrome with the characteristic FGFR3 Pro250Arg mutation." — genetics consultation report
- "The patient's family history was significant for Muenke syndrome with variable expression across generations." — medical history documentation