Paula and Bobby
Parents of Lillie
What is Odontoonychodermal Dysplasia?
It is a rare genetic syndrome that mainly affects the skin and hair of affected individuals.
What gene changes cause Odontoonychodermal Dysplasia?
Changes in the WNT10A gene are responsible for causing the syndrome. It is inherited in an autosomal recessive pattern of inheritance.
Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms, but have a 25% chance of passing the copies of the gene mutations onto each of their children.
What are the main symptoms of Odontoonychodermal Dysplasia?
The main symptoms of the syndrome include dry hair, a very smooth tongue and patches of overdeveloped skin on the palms of the hands and the soles of the feet.
Onychodysplasia and abnormalities of the tongue are also part of the syndrome.
How does someone get tested for Odontoonychodermal Dysplasia?
The initial testing for Odontoonychodermal Dysplasia 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.
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Our platform is currently used by over 70% of geneticists and has been used to diagnose over 250,000 patients worldwide.
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Our seamless process begins with an initial online diagnosis by a genetic counselor and follows by consultations with geneticists and genetic testing.
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