" /> Muenke syndrome - CISMeF





Preferred Label : Muenke syndrome;

Symbol : MNKES;

CISMeF acronym : MNKES;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Muenke nonsyndromic coronal craniosynostosis;

Description : Muenke syndrome is an autosomal dominant disorder characterized by uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay. 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 (summary by Abdel-Salam et al., 2011).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the fibroblast growth factor receptor 3 gene (FGFR3, 134934.0014);

Prefixed ID : #602849;

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02/05/2025


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