Muenke Syndrome [Supplementary Concept]
A hereditary autosomal dominant disorder characterized by uni- or bicoronal synostosis (craniosyostoses), MACROCEPHALY, midfacial hypoplasia, and DEVELOPMENTAL DISABILITIES. Other more variable features include thimble-shaped middle phalanges, BRACHYDACTYLY, carpal/tarsal fusion, and DEAFNESS. The phenotype is variable and can range from no detectable clinical manifestations to complex findings. This disorder is caused by a mutation (P250R) in the FGFR3 gene. OMIM: 602849
Date introduced: August 25, 2010
MeSH Unique ID: C537369
Heading Mapped to:
Entry Terms:
- Syndrome of coronal craniosynostosis
- FGFR3-Associated Coronal Synostosis
- Muenke nonsyndromic coronal craniosynostosis