Paula and Bobby
Parents of Lillie
Blepharocheilodontic syndrome (BCDS)
What is Blepharocheilodontic syndrome (BCDS)?
A rare genetic syndrome that affects mainly the eyes and teeth.
There are 50 cases identified worldwide to date making it a very rare disease.
What gene changes cause Blepharocheilodontic syndrome (BCDS)?
Mutations in the CDH1 and CTNND1 genes are responsible for causing the syndrome.
The syndrome may occur as the result of a de novo mutation, and is inherited in an autosomal dominant pattern
What are the main symptoms of Blepharocheilodontic syndrome (BCDS)?
The main symptoms of the syndrome affect the eyelids, lips and teeth of affected individuals.
These features include exposed inner surface of the lower eyelids, as well as extra eyelashes. Generally individuals have fewer teeth than normal and these teeth may be smaller as well.
Other physical features of the syndrome include widely spaced eyes, a flat face and high forehead. The syndrome may also affect the development of the nails.
How does someone get tested for Blepharocheilodontic syndrome (BCDS)?
The initial testing for Blepharocheilodontic 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.
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.
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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.
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We guarantee the utmost protection of all images and patient information. Your data is always safe, secure, and encrypted.