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);