Blepharocheilodontic syndrome (BCDS)

Blepharocheilodontic Syndrome
* This composite image of Blepharocheilodontic syndrome was created to help geneticists get a better analysis

What is Blepharocheilodontic syndrome (BCDS)?

Blepharocheilodontic syndrome is 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 change causes 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 the 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 a high forehead. The syndrome may also affect the development of the nails.

How is it diagnosed?

To find out if someone has a diagnosis of Blepharocheilodontic syndrome (BCDS), it is important to have a consultation and evaluation with a clinical genetic specialist.  Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis.  FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.

More syndromes

Syndromes & Disorders

Weiss-Kruszka syndrome (WSKA)

It is a multiple congenital anomaly syndrome that has been recently identified. There are just 24 potential cases currently reported worldwide. It is also known as Weiss-Kruska syndrome. The gene responsible for the disorder is the ZNF462 gene. The main emerging symptoms of the syndrome include developmental delay, and in some cases, individuals also receive […]

Read more
Syndromes & Disorders

Yunis-Varon syndrome (YVS)

Yunis Varon syndrome is a rare genetic disease that affects multiple systems of the body. Its main symptoms affect the skeletal and nervous systems, as well as ectodermal tissue (hair and teeth). Since 1980 just 25 cases from 19 families have been diagnosed and recorded. This syndrome is also known as:Cleidocranial Dysplasia with Micrognathia, Absent […]

Read more
Syndromes & Disorders

Xia-Gibbs syndrome (XIGIS)

Xia-Gibbs syndrome is a rare genetic syndrome associated mainly with intellectual disability. This syndrome is also known as:Mental Retardation, Autosomal Dominant 25; MRD25 Changes in the AHDC1 gene are responsible for causing the syndrome. It is inherited in an autosomal dominant pattern, although all cases of the syndrome recorded so far have been the result […]

Read more