Hay–Wells syndrome
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
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| Hay–Wells syndrome | |
|---|---|
| 200px | |
| Synonyms | AEC syndrome, ankyloblepharon-ectodermal dysplasia-clefting syndrome |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | Ankyloblepharon, ectodermal dysplasia, cleft palate, cleft lip |
| Complications | N/A |
| Onset | |
| Duration | |
| Types | |
| Causes | Genetic mutation in the TP63 gene |
| Risks | |
| Diagnosis | Clinical diagnosis, genetic testing |
| Differential diagnosis | |
| Prevention | |
| Treatment | Symptomatic treatment, surgical correction |
| Medication | |
| Prognosis | |
| Frequency | Rare |
| Deaths | |
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[edit]
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[edit]
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[edit]
The diagnosis of Hay–Wells syndrome is typically based on the presence of characteristic signs and symptoms. Genetic testing can confirm the diagnosis.
Treatment[edit]
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[edit]
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