Barber-Say syndrome

Definition:

Barber-Say syndrome (BSS) is a rare autosomal dominant disorder characterized by generalized hypertrichosis especially at the back, other typical abnormalities of the skin, and facial dysmorphisms. It has been reported that BSS is due to mutations in TWIST2.

References:

[1]. Jennifer Haensel, et al. Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder. Am J Med Genet A. 2009 Oct;149A(10):2236-40. [Content Brief]

[2]. Shannon Marchegiani, et al. Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes. Am J Hum Genet. 2015 Jul 2;97(1):99-110. [Content Brief]

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