Summary
This syndrome, designated as Hay Wells syndrome, is characterised by congenital ectodermal dysplasia with wiry, sparse hair; dystrophic nails; slight hypohidrosis; scalp infections; ankyloblepharon filiform adnatum (apposing eyelid margins connected by abnormal tissue strands); hypodontia (missing teeth); maxillary hypoplasia; and cleft lip/palate. About 15 cases in 8 families have been described. In one case was reported also congenital adhesions between the upper and lower jaws (alveolar synechiae). Most of the reported families are in favour of an autosomal dominant mode of inheritance. One case of germinal mosaicism was suspected in the case of healthy unrelated parents with two affected children, but an autosomal recessive inheritance cannot be excluded. Hay-Wells syndrome should be distinguished from other ectodermal dysplasia syndromes, especially ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC); heterozygous missense mutations in the p63 gene, which are the major cause of EEC syndrome, were identified in 8 families of Hay-Wells syndrome. All mutations gave rise to amino acid substitutions in the sterile alpha motif (SAM) domain, and were predicted to affect protein-protein interactions. In contrast, the majority of the mutations found in EEC syndrome are amino acid substitutions in the DNA-binding domain. It seems that a distinct genotype-phenotype correlation can be recognized for EEC and AEC syndromes. *Author : Orphanet (May 2004)*.
