Nicolaides–Baraitser syndrome

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Nicolaides–Baraitser syndrome (NBS) is a rare genetic disorder characterized by distinctive facial features, intellectual disability, and various physical abnormalities. The syndrome was first described by P. Nicolaides and M. Baraitser in 1993.

Signs and Symptoms[edit | edit source]

Individuals with Nicolaides–Baraitser syndrome typically present with:

Genetics[edit | edit source]

Nicolaides–Baraitser syndrome is caused by mutations in the SMARCA2 gene, which plays a role in chromatin remodeling. This gene is located on chromosome 9.

Diagnosis[edit | edit source]

Diagnosis of Nicolaides–Baraitser syndrome is primarily based on clinical features and confirmed by genetic testing to identify mutations in the SMARCA2 gene.

Management[edit | edit source]

There is no cure for Nicolaides–Baraitser syndrome. Management focuses on treating the symptoms and may include:

Prognosis[edit | edit source]

The prognosis for individuals with Nicolaides–Baraitser syndrome varies depending on the severity of symptoms and associated health issues. Lifespan may be reduced in some cases due to complications from seizures or other medical conditions.

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Categories[edit | edit source]


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Contributors: Prab R. Tumpati, MD