Beare-Stevenson syndrome

Definition:

Beare-Stevenson cutis gyrata syndrome is an extremely rare autosomal dominant condition characterized by the furrowed skin disorder called cutis gyrata, acanthosis nigricans, craniosynostosis, craniofacial dysmorphism, digital anomalies, umbilical and anogenital abnormalities and early death. Mutations of FGFR2 have been identified.

References:

[1]. K A Przylepa, et al. Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome. Nat Genet. 1996 Aug;13(4):492-4. [Content Brief]

[2]. Renata Fonseca, et al. Second case of Beare-Stevenson syndrome with an FGFR2 Ser372Cys mutation. Am J Med Genet A. 2008 Mar 1;146A(5):658-60. [Content Brief]

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