Rapp–Hodgkin syndrome

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Rapp–Hodgkin syndrome (RHS) is a rare genetic disorder characterized by a combination of ectodermal dysplasia, cleft lip and palate, and other anomalies. It is named after the researchers Robert S. Rapp and Peter J. Hodgkin, who first described the syndrome.

Presentation

Individuals with Rapp–Hodgkin syndrome typically present with a variety of symptoms, including:

• Cleft lip and/or cleft palate
• Hypohidrosis (reduced ability to sweat)
• Hypotrichosis (sparse hair)
• Dental anomalies such as missing or malformed teeth
• Nail dysplasia
• Facial dysmorphism including a prominent forehead and a broad nasal bridge

Genetics

Rapp–Hodgkin syndrome is inherited in an autosomal dominant manner. Mutations in the TP63 gene, which plays a crucial role in the development of ectodermal tissues, are responsible for the condition. The TP63 gene is also implicated in other syndromes such as Ectrodactyly-Ectodermal Dysplasia-Clefting syndrome (EEC) and Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate syndrome (AEC).

Diagnosis

Diagnosis of Rapp–Hodgkin syndrome is based on clinical evaluation and the identification of characteristic features. Genetic testing can confirm the presence of mutations in the TP63 gene. Differential diagnosis includes other forms of ectodermal dysplasia and syndromes with overlapping features.

Management

Management of Rapp–Hodgkin syndrome is symptomatic and supportive. This may include:

• Surgical repair of cleft lip and palate
• Dental care for dental anomalies
• Management of hypohidrosis to prevent overheating
• Regular monitoring and supportive care for other associated anomalies

Epidemiology

Rapp–Hodgkin syndrome is extremely rare, with only a few cases reported in the medical literature. The exact prevalence is unknown.

See also

• Ectodermal dysplasia
• Cleft lip and palate
• TP63 gene
• Ectrodactyly-Ectodermal Dysplasia-Clefting syndrome
• Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate syndrome

External links

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