Muenke syndrome

Definition:

Muenke syndrome is an autosomal dominant disorder characterized by coronal suture craniosynostosis, hearing loss, developmental delay, carpal and tarsal fusions, and the presence of the mutation P250R in FGFR3 gene.

References:

[1]. A Golla, et al. Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family. J Med Genet. 1997 Aug;34(8):683-4. [Content Brief]

[2]. Emily S Doherty, et al. Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature. Am J Med Genet A. 2007 Dec 15;143A(24):3204-15. [Content Brief]

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