A family from Turkey with Hay Wells Syndrome resulting from heterozygous mutation of TP 63 gene

Background: Hay Wells Syndome, also known as ankyloblepharon–ectodermal dysplasia–clefting (AEC) syndrome, is a rare autosomal dominant genetic syndrome. Its major features are ankyloblepharon (fusion of the eye lids), ectodermal dysplasia and and orofacial clefting. It is known that heterozygous mutations of the TP63 gene causes this syndrome. A two-month-old boy, who was the case report in this paper, was referred to our clinic with ankyloblepharon, cleft palate and a dysmorphic facial appearance. Results: When we observed the findings of ectodermal dysplasia on the physical examination, we made the prediagnosis of Hay Wells Syndrome. It was learned from the family history that the father of the baby was mentally retarded with clefting of the feet. TP63 gene sequential analysis was performed on the boy and the father in Turin. A heterozygote c.1553G>T mutation was found at both father and child. Conclusions: It is important when in the family history, one of the parents has mild findings of autosomal dominant diseases which should not be missed and should be considered in the diagnosis of rare genetic diseases, and we tried to re-emphasize the fact that some similar syndromes may be caused by mutations of the same gene.