Hay–Wells syndrome
Hay–Wells syndrome (pronunciation: hay-wells sin-drohm), also known as Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate or AEC syndrome, is a rare genetic disorder characterized by a variety of physical features. The syndrome is named after the two doctors, Hay and Wells, who first described the condition in 1976.
Etymology
The term "Hay–Wells" is derived from the names of the two doctors who first described the syndrome, Dr. Richard J. Hay and Dr. David Wells. The term "syndrome" comes from the Greek word "syndromē", which means "concurrence of symptoms" or "running together".
Symptoms
The symptoms of Hay–Wells syndrome can vary greatly from person to person. However, some common features include ankyloblepharon (partial or complete fusion of the eyelids), ectodermal dysplasia (abnormal development of the skin and associated structures), and cleft lip and/or cleft palate. Other possible features include hypohidrosis (reduced ability to sweat), hypotrichosis (sparse hair), nail dystrophy (abnormal nail growth), and dental anomalies.
Causes
Hay–Wells syndrome is caused by mutations in the TP63 gene, which provides instructions for making a protein that is crucial for the development and maintenance of various tissues, including the skin, hair, teeth, and glands.
Diagnosis
Diagnosis of Hay–Wells syndrome is typically based on the presence of characteristic physical features. Genetic testing can confirm the diagnosis by identifying a mutation in the TP63 gene.
Treatment
There is currently no cure for Hay–Wells syndrome. Treatment is symptomatic and supportive, and may include surgery to correct cleft lip and/or palate, treatment for skin abnormalities, and management of dental anomalies.
See also
External links
- Medical encyclopedia article on Hay–Wells syndrome
- Wikipedia's article - Hay–Wells syndrome
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