Rapp–Hodgkin syndrome

Rapp–Hodgkin syndrome is a rare genetic disorder characterized by distinctive facial features, abnormalities of the skin, hair, teeth, and sweat glands, and various other anomalies.

Signs and Symptoms

The most common signs and symptoms of Rapp–Hodgkin syndrome include ectodermal dysplasia, cleft lip and/or cleft palate, and hypodontia or anodontia. Other features can include hypohidrosis, hypotrichosis, and onychodysplasia.

Causes

Rapp–Hodgkin 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

Diagnosis of Rapp–Hodgkin syndrome is based on the presence of characteristic signs and symptoms. Genetic testing can confirm the diagnosis.

Treatment

Treatment of Rapp–Hodgkin syndrome is symptomatic and supportive. It may include dental implants for missing teeth, surgery for cleft lip and/or palate, and measures to manage hypohidrosis.

See Also

• Ectodermal dysplasia
• Cleft lip and palate
• TP63

References

Rapp–Hodgkin syndrome Resources
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