Hay-Wells Syndrome (AEC) synonyms
What other names are the Hay-Wells Syndrome (AEC) known by? Synonyms and other terms with which Hay-Wells Syndrome (AEC) is known.
Hay-Wells Syndrome, also known as Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) syndrome, 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 structures.
Ankyloblepharon, which refers to the fusion of the eyelids, is a prominent feature of this syndrome. Newborns with AEC syndrome may have partial or complete fusion of the eyelids, leading to potential vision impairment. Surgical intervention is often required to separate the fused eyelids and improve visual function.
Ectodermal defects are another hallmark of Hay-Wells Syndrome. These defects primarily affect the skin, hair, and nails. Individuals with AEC syndrome may have thin, fragile skin that is prone to blistering and scarring. Hair abnormalities can range from sparse or absent hair to coarse and brittle hair. Nail abnormalities, such as ridges or pitting, are also common.
Cleft lip and/or palate is a common feature of AEC syndrome. This refers to a split or opening in the upper lip and/or roof of the mouth. Cleft lip and palate can cause difficulties with feeding, speech, and dental health. Surgical repair is typically performed to correct these abnormalities and improve function.
Other associated features of Hay-Wells Syndrome may include abnormal tooth development, hearing loss, genitourinary abnormalities, and developmental delays. The severity and combination of symptoms can vary widely among affected individuals.
Hay-Wells Syndrome is caused by mutations in the TP63 gene, which plays a crucial role in embryonic development. It follows an autosomal dominant pattern of inheritance, meaning that an affected individual has a 50% chance of passing the condition on to each of their children.
Although there is currently no cure for Hay-Wells Syndrome, management focuses on addressing the specific symptoms and improving quality of life. This may involve a multidisciplinary approach, including surgical interventions, dermatological care, dental treatments, and supportive therapies.
