Paula and Bobby
Parents of Lillie
What is Rapp-Hodgkin syndrome?
It 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.
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 symptoms include sparse and dry hair with alopecia (hair loss). Most individuals are also affected by an inability or reduced ability to sweat, as well as an increased 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 does someone get tested for Rapp-Hodgkin syndrome?
The initial testing for Rapp-Hodgkin can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
What is FDNA Telehealth?
FDNA Telehealth is a leading digital health company that provides faster access to accurate genetic analysis.
With a hospital technology recommended by leading geneticists, our unique platform connects patients with genetic experts to answer their most pressing questions and clarify any concerns they may have about their symptoms.
Benefits of FDNA Telehealth
Our platform is currently used by over 70% of geneticists and has been used to diagnose over 250,000 patients worldwide.
FDNA Telehealth provides facial analysis and screening in minutes, followed by fast access to genetic counselors and geneticists.
Ease of Use
Our seamless process begins with an initial online diagnosis by a genetic counselor and follows by consultations with geneticists and genetic testing.
Accuracy & Precision
Advanced artificial intelligence (AI) capabilities and technology with a 90% accuracy rate for a more accurate genetic analysis.
Faster access to genetic counselors, geneticists, genetic testing, and a diagnosis. As fast as within 24 hours if required. Save time and money.
Privacy & Security
We guarantee the utmost protection of all images and patient information. Your data is always safe, secure, and encrypted.