Paula and Bobby
Parents of Lillie
What is Barber-Say syndrome?
This rare disease is a congenital condition with fewer than 20 patients diagnosed worldwide, to date.
It’s most common feature is excessive hair growth, especially on the back of affected individuals. The syndrome also presents with unique facial features, thin skin and deafness.
What gene changes cause Barber-Say syndrome?
Mutations in the TWIST2 gene are responsible for the condition. There is some debate and ongoing research into how the mutation is inherited, although research suggests some evidence of inheritance in an autosomal dominant pattern.
In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.
What are the main symptoms of Barber-Say syndrome?
Excessive hair growth is a major feature of the condition. As is weak and thin skin, and delayed tooth eruption. Individuals may fail to thrive. Deafness is also common.
Unique facial and physical features of the syndrome include outward turned eyelids, absent eyebrows and wide-set eyes. A large and broad mouth are also common features.
How does someone get tested for Barber-Say syndrome?
The initial testing for Barber-Say syndrome 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.
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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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