Jackson-Weiss syndrome

Definition:

Jackson-Weiss syndrome (JWS) is an autosomal dominant condition characterized by craniosynostosis, foot anomalies and great phenotypic variability. While mutations of multiple genes have been identified in syndromic craniosynostosis, the most frequently mutated gene is FGFR2. Mutations of FGFR1 have occasionally been identified in JWS.

References:

[1]. Akira Ohishi, et al. Mutation analysis of FGFR1-3 in 11 Japanese patients with syndromic craniosynostoses. Am J Med Genet A. 2017 Jan;173(1):157-162. [Content Brief]

[2]. E W Jabs, et al. Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. Nat Genet. 1994 Nov;8(3):275-9. [Content Brief]

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