Hay-Wells Syndrome, also known as Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC), is a rare genetic disorder that affects multiple systems in the body. It is characterized by a combination of abnormalities involving the skin, hair, nails, teeth, and other organs.
AEC syndrome is primarily caused by mutations in the TP63 gene, which plays a crucial role in the development of various tissues. These mutations disrupt the normal functioning of the gene, leading to the characteristic features of the syndrome.
The most prominent features of Hay-Wells Syndrome include ankyloblepharon (fusion of the eyelids), ectodermal defects (such as sparse hair, absent or malformed sweat glands, and abnormal tooth development), and cleft lip/palate. Additionally, individuals with AEC may experience skin erosions, abnormalities in the fingers and toes, and genitourinary abnormalities.
Due to the wide range of symptoms, management of Hay-Wells Syndrome involves a multidisciplinary approach. Treatment focuses on addressing specific symptoms and may include surgical interventions, dental care, and supportive therapies to improve quality of life.