Hay–Wells syndrome

Hay–Wells syndrome (also known as AEC syndrome) is a rare genetic disorder characterized by anodontia or hypodontia, ectodermal dysplasia, and cleft lip/palate. The syndrome is caused by mutations in the TP63 gene.

Symptoms

The symptoms of Hay–Wells syndrome can vary greatly from person to person. However, common symptoms include:

• Anodontia or hypodontia: This refers to the absence or underdevelopment of teeth.
• Ectodermal dysplasia: This is a group of conditions in which the normal development of the ectodermal tissues (including the skin, hair, nails, and sweat glands) is disturbed.
• Cleft lip/palate: This is a split in the upper lip and/or roof of the mouth that is present from birth.

Causes

Hay–Wells syndrome is caused by mutations in the TP63 gene. This gene provides instructions for making a protein that is crucial for the development and maintenance of various tissues, including the skin, hair, teeth, and sweat glands.

Diagnosis

The diagnosis of Hay–Wells syndrome is typically based on the presence of characteristic signs and symptoms. Genetic testing can confirm the diagnosis.

Treatment

There is currently no cure for Hay–Wells syndrome. Treatment is symptomatic and supportive, and may include dental implants for missing teeth, surgery for cleft lip/palate, and various interventions to manage the symptoms of ectodermal dysplasia.

See also

• Ectodermal dysplasia
• Cleft lip and palate
• Genetic disorder
• TP63

Hay–Wells syndrome Resources
Need Help Finding a Doctor? Need help finding a doctor or specialist anywhere in the world? Explore our world directory. WikiMD's DocFinder can assist you in locating millions of physicians.	Medical Knowledge Access the latest research - Most recent articles Ongoing trials.

Translate to: East Asian 中文, 日本, 한국어, South Asian हिन्दी, Urdu, বাংলা, తెలుగు, தமிழ், ಕನ್ನಡ,
Southeast Asian Indonesian, Vietnamese, Thai, မြန်မာဘာသာ, European español, Deutsch, français, русский, português do Brasil, Italian, polski