Nicolaides–Baraitser syndrome
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:
- Coarse facial features including a wide mouth, broad nose, and thick eyebrows
- Intellectual disability ranging from mild to severe
- Seizures or epilepsy
- Sparse scalp hair
- Short stature
- Brachydactyly (short fingers and toes)
- Joint abnormalities such as hyperextensibility or contractures
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:
- Antiepileptic drugs for seizure control
- Physical therapy and occupational therapy to improve mobility and daily functioning
- Speech therapy to address communication difficulties
- Regular monitoring and supportive care for associated health issues
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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Contributors: Prab R. Tumpati, MD