Cleft Palate Research Today is a free monthly online journal that collates and summarizes the latest research about Cleft Palate, including details on causes, surgery, treatment.

Hay-Wells syndrome in a child with mutation in the TP73L gene.

Garcia Bartels N, Neumann LM, Mleczko A, Rubach K, Peters H, Rossi R, Sterry W, Blume-Peytavi U

Department of Dermatology and Allergy, Charité- Universitätsmedizin Berlin, Germany. natalie.garcia-bartels@charite.de

Hay-Wells syndrome is a rare form of ectodermal dysplasia, also known as AEC syndrome (Ankyloblepharon filiforme adnatum, Ectodermal effects, Cleft lip/palate). It is inherited in an autosomal dominant fashion with variable expression, featuring congenital abnormalities of skin, hair, teeth, nail, eccrine and mucous glands. We present a three-month-old boy, born to unaffected parents, with typical clinical findings of AEC syndrome. In this boy, a mutation Ile537Thr (c.1610C>T) in the sterile alpha motive (SAM) domain of the TP73L (p63) gene was detected. Because of the broad spectrum of related syndromes such as Rapp-Hodgkin syndrome, Bowen-Armstrong syndrome, CHAND syndrome and epidermolysis bullosa hereditaria, the diagnosis of AEC should be base don both clinical findings and genetic analysis.

Published 3 October 2007 in J Dtsch Dermatol Ges, 5(10): 919-23.
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