MeSH Browser

MeSH Supplementary: Muenke Syndrome
Unique ID: C537369
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C537369
Entry Term(s): FGFR3-Associated Coronal Synostosis; Muenke nonsyndromic coronal craniosynostosis; Syndrome of coronal craniosynostosis
Registry Numbers: 0
Heading Mapped to: *Craniosynostoses
Frequency: 45
Note: 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 of Entry: 2010/08/25
Revision Date: 2015/08/18

Muenke Syndrome MeSH Supplementary Concept Data 2024