C84904Level 6
Muenke Syndrome
**Semantic type:** Disease or Syndrome
**Definition:** A rare autosomal dominant inherited disorder caused by mutations in the FGFR3 gene. It is characterized by premature fusion of cranial bones, resulting in head shape abnormalities, flattened cheekbones, and wide-set eyes.
**Synonyms:** - FGFR3-Related Craniosynostosis
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