AEC syndrome

AEC syndrome

AEC Syndrome, also known as Hay-Wells Syndrome, is a very rare autosomal dominant condition characterized by a wide spectrum of symptoms associated with the skin and skin adnexa, teeth, skin glands, and extremities. Symptoms may include ankyloblepharon, ectodermal dysplasia, and cleft palate.From: Practical Paediatric Problems [2019], A rare form of ankyloblepharon filiforme adnatum associated with the Hay–Wells syndrome and a c.1709T>C mutation on the TP63 gene [2018]

The skin

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Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019

Angus Clarke

Other types of ectodermal dysplasia are autosomal. Both dominant and recessive types have been described, as well as a number of more generalised syndromes. There is a family of TP63-associated ectodermal dysplasia syndromes, including the ectrodactyly-ectodermal dysplasia–cleft lip/palate (EEC) syndrome, the Rapp-Hodgkin syndrome and the ankyloblepharon-ectodermal defects–cleft lip/palate (AEC) syndrome. Clouston hidrotic ectodermal dysplasia results from alterations to the gene GJB6, and hence to the protein connexin 30, disrupting cell-cell junctions.

A rare form of ankyloblepharon filiforme adnatum associated with the Hay–Wells syndrome and a c.1709T>C mutation on the TP63 gene

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Published in Ophthalmic Genetics, 2018

Michal Koubek, Kristýna Strakošová, Juraj Timkovič, Dagmar Grečmalová, Aneta Orlíková, Hana Burčková, Hana Wiedermannová, Petr Mašek

Hay–Wells (AEC) syndrome is an exceedingly rare disorder characterized by a wide spectrum of symptoms associated with the skin and skin adnexa to various degrees as well as with teeth, skin glands and extremities. Ankyloblepharon is a common symptom along with medium to severe skin erosions, abnormal hair, and lip and/or palate cleft. The syndrome is caused by mutations in TP63 gene on the 3q27 chromosome. Mostly, these mutations are “de novo”, however they can also be a hereditary autosomal dominant disease. The TP63 gene is encoding p63 protein, crucial for the development of extremities and ectoderm-derived structures such as hair, nails, skin glands, oral mucosa, etc., and its disruption can lead to the above mentioned disorders. (5,6).

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The skin

A rare form of ankyloblepharon filiforme adnatum associated with the Hay–Wells syndrome and a c.1709T>C mutation on the TP63 gene