Nicolaides–Baraitser syndrome

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Nicolaides–Baraitser syndrome
Synonyms	N/A
Pronounce
Specialty	Medical genetics
Symptoms	Intellectual disability, seizures, distinctive facial features, short stature, sparse hair
Complications	N/A
Onset	Infancy
Duration	Lifelong
Types
Causes	Genetic mutation in the SMARCA2 gene
Risks
Diagnosis	Clinical evaluation, genetic testing
Differential diagnosis	Coffin–Siris syndrome, Cornelia de Lange syndrome
Prevention
Treatment	Symptomatic treatment, supportive care
Medication	Anticonvulsants for seizures
Prognosis	Variable
Frequency	Rare
Deaths

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

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

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

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

Management

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

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.

See also

• Genetic disorder
• Intellectual disability
• Epilepsy
• Chromatin remodeling
• Brachydactyly

Categories

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