Nicolaides-Baraitser syndrome (NCBRS)

What is Nicolaides-Baraitser syndrome (NCBRS)?

Nicolaides-Baraitser syndrome is a very rare genetic condition with just 75 known recorded cases. to date.

Common symptoms of the syndrome include, severe mental retardation, short stature, sparse hair, early-onset seizures, and characteristic facial features.

What gene changes cause Nicolaides-Baraitser syndrome (NCBRS)?

The syndrome is caused by a mutation in the SMARCA2 gene. Mutations are de novo and the condition is not inherited.

In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.

What are the main symptoms of Nicolaides-Baraitser syndrome (NCBRS)?

Facial and physical characteristics include, a triangular face, sparse scalp hair, microcephaly, a short stature, prominent finger joints, exceptionally short fingers and toes, deep-set eyes, a thin nasal bridge, wide nostrils and a thick lower lip.

Individuals with the syndrome usually have a lack of subcutaneous fat under their facial skin which leads to early wrinkling of the skin, visible veins and pale skin.

Other health conditions may include severe seizures and epilepsy, moderate-several intellectual disability and limited to zero speech development. ⅓ of all individuals with the syndrome will have no speech.

Feeding issues and problems are also common to the syndrome, as are umbilical or inaugural hernias. Some individuals may experience genital and dental abnormalities.

How does someone get tested for Nicolaides-Baraitser syndrome (NCBRS)?

The initial testing for Nicolaides-Baraitser syndrome (NCBRS) 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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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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