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Muenke Syndrome MeSH Supplementary Concept Data 2024


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
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 Preferred
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