Hay–Wells syndrome

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Hay–Wells syndrome
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Synonyms AEC syndrome, ankyloblepharon-ectodermal dysplasia-clefting syndrome
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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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