What is Rapp-Hodgkin syndrome?
Rapp-Hodgkin is a rare genetic syndrome that is also a form of ectodermal dysplasia. There are around 150 conditions within the group of ectodermal dysplasia syndromes that present with similar symptoms. The syndrome mainly affects the skin, hair, nails, teeth, and sweat glands of affected individuals.
This syndrome is also known as:
Ectodermal Dysplasia, Anhidrotic, with Cleft Lip/palate RHS
What gene changes cause Rapp-Hodgkin syndrome?
Changes in the TP63 gene cause the syndrome.
It is inherited in an autosomal dominant pattern.
What are the main symptoms of Rapp-Hodgkin syndrome?
- The syndrome is characterized by symptoms that affect the skin, hair, nails, teeth, and sweat glands of affected individuals.
- These signs include thinning, brittle hair, often accompanied by hair loss (alopecia). Many individuals experience little to no ability to sweat, along with heightened sensitivity to heat.
- Issues affecting the teeth include absent teeth, cone-shaped incisors, and enamel that is thin or absent.
- Individuals affected also have misshapen or absent nails on their fingers and toes.
How is it diagnosed?
To find out if someone has a diagnosis of Rapp-Hodgkin syndrome, it is important to have a consultation and evaluation with a clinical genetic specialist. Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis. FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.
