Ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome or Hay-Wells syndrome is a rare genetic disorder characterized by deformities in the eyes, skin, hair, nails, teeth, hands, feet, and certain glands. The most common symptoms include abnormally and partially fused upper and lower eyelids due to fibrous strands of tissue (ankyloblepharon), abnormal hair, mild to severe skin erosions, and cleft palate and/or cleft lip. Specific symptoms may vary from case to case.
Disease characteristics This syndrome affects males and females equally and the exact incidence and prevalence in the general population are unknown. Being a rare disorder, globally fewer than 100 affected individuals have been described in medical literature. The diagnosis of AEC syndrome mostly involves a detailed patient history and clinical examination for the identification of characteristic symptoms.…
