Hay-wells syndrome Q82.4

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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AEC Syndrome; Ankyloblepharon Ectodermal Dysplasia Clefting Syndrome

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Hay & Wells, 1976

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Rare form of ectodermal dysplasia, which was delimited in 1976 as a specific, autosomal dominant syndrome from the large group of ectodermal dysplasias (which comprises > 150 different syndromes).

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So far, less than 50 cases in 20 families have been reported.

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  • Autosomal-dominantly inherited mutations of the p63 gene mapped on the genloci 7q11-q21.3, 7q11 and 19q. S.a. ADULT syndrome and EEC syndrome.
  • Mutations of the SAM region of the TP73L gene (p63 gene; chromosome 3q27) have also been detected which lead to abnormal splicing of the keratinocyte growth factor, inhibition of specific protein-protein interactions or repression of transcription of other growth-related genes. The mutation is found in a number of other ectodermal dysplasia syndromes (e.g. EEC syndrome). To date, 5 distinct human malformation syndromes have been described in which mutations have been found in the p63 gene. Here, a far-reaching correlation in the genotype-phenotype can be recognized.

Clinical features
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  • Diffuse erosive inflammation of the scalp caused by extensive epithelial defects with consecutive scarred alopecia. The skin is reddish at birth, shows coarse lamellar scaling and mostly palmo-plantar keratoses.
  • Furthermore, ankyloblepharon, oligodontia, onychodystrophy (also anonychia), hypohidrosis with abnormal regulation of the heat balance (hyperpyretic epidsodes), clefts in the lip and/or palate, hyperthelia, syndactyly may occur.
  • The hair on the head of the affected person is sparse, sometimes wiry, with irregular hair shaft anomalies and hair hypopigmentation. Eyelashes are sparse or missing completely.
  • Nails may be missing or malformed. Sweat glands may be affected similarly to those of the anhidrotic ectodermal dysplasia (Christ-Siemens-Tourraine syndrome). The teeth are often small, conically shaped, possibly reduced in number, and there is a susceptibility to caries due to the lack of saliva secretion.

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Symptomatic dermatological therapy; surgical intervention for ankyloblepharon and cleft lip and palate.

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  1. Bartels NG et al (2007) Hay-Wells syndrome in a child with a mutation on the gene TP73L. JDDG 10: 919-923
  2. Hay JR, Wells RS (1976) The syndrome of ancyloblepharon, ectodermal defects and cleft lip and palate: autosomal dominant condition. Br J Dermatol 94: 277-289

Incoming links (2)

Aec syndrome; Ectodermal dysplasia ;


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Last updated on: 29.10.2020