Hay-Wells syndrome, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome, is a rare disorder characterized by congenital ectodermal dysplasia. It is one of a group of syndromes that are characterized by abnormalities of the ectodermal structures including, hair, teeth, nails, sweat glands, cranial-facial structure, and hands.
AEC syndrome was first described by researchers Hay and Wells in 1976 when they observed seven individuals from two families with several distinctive features and symptoms. These included sparse hair on the scalp and body, ankyloblepharon (fusing of the upper and lower eyelids), cleft palate (incomplete closure of the roof of the mouth), and cleft lip (an abnormal groove in the upper lip). People with AEC syndrome are generally of normal intelligence.
AEC syndrome is caused by a mutation or defect in the TP73L gene, which produces several variants of the p73-like tumor protein (p73L). AEC syndrome is inherited, or passed down among family members. The syndrome follows an autosomal dominant pattern of inheritance, meaning that only one copy of the defective gene is needed for the disease to occur. However, not all research agrees on the patterns of inheritance.
Several researchers have noted an overlap between AEC syndrome and other forms of ectodermal dysplasia, such as ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC), limb-mammary syndrome (LMS), acro-dermato-ungual-lacrimal-tooth syndrome (ADULT), and recessive cleft lip/palate-ectodermal dysplasia (CLPED1).
AEC syndrome, ankyloblepharon-ectodermal dysplasia, clefting, Hay-Wells syndrome of ectodermal dysplasia.