Ablepharon-macrostomia syndrome

Definition:

Ablepharon-macrostomia syndrome (AMS) is a rare autosomal dominant condition characterized by absent eyelids, absent eyebrows and eyelashes, macrostomia, and external ear abnormalities. It has been reported that AMS is due to mutations in TWIST2.

References:

[1]. Francesco Brancati, et al. Ablepharon-macrostomia syndrome in a 46-year-old woman. Am J Med Genet A. 2004 May 15;127A(1):96-98. [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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