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.

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