ALTERNATE NAMES

Intellectual Disability-Sparse Hair-Brachydactyly Syndrome; NBS; NCBRS; Sparse Hair and Mental Retardation

DESCRIPTION

Nicolaides-Baraitser syndrome (NCBRS) is a very rare condition characterized by severe intellectual disability and various physical features. Features of the condition can worsen over time. NCBRS is caused by mutations in the SMARCA2 gene and is inherited in an autosomal dominant manner. However, all cases of NCBRS reported to date have been sporadic, occurring in people with no family history of NCBRS.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: Genetic testing showing mutations in the SMARCA2 gene.

Physical findings:

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  Intellectual disability;

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  Seizures;

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  Short stature;

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  Sparse hair;

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  Triangular-shaped face;

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  Prominent eyelashes;

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  Nose with a broad base, thick nostrils, and upturned tip;

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  Broad philtrum (indentation in middle of upper lip);

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  Wide mouth;

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  Narrow and or down-slanting palpebral fissures (width of the eyes);

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  Osteoporosis;

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  Short fingers and toes (brachydactyly); and

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  Prominent joints of the fingers and toes (interphalangeal joints).

ICD-9: 758.5

ICD-10: Q87.1

PROGRESSION

Most individuals with NCBRS have epilepsy, which often begins in infancy. Affected individuals can experience multiple seizure types, and the seizures can be difficult to control with medication.

All individuals with NCBRS have moderate to severe intellectual disability. Early developmental milestones, such as crawling and walking, are often normally achieved, but further development is limited, and language development is severely impaired. At least one-third of affected individuals never develop speech, while others lose their verbal communication over time. People with this condition are often described as having a happy demeanor and being very friendly, although they can exhibit moments of aggression and temper tantrums.

While some features of NCBRS are always present, there is variability, and the severity of features may range from mild to severe. Therefore, the long-term outlook may vary among affected people.

TREATMENT

Treatment of NCBRS focuses on managing individual symptoms. Depending on the symptoms present, treatment might include medication, occupational therapy, physical therapy, speech therapy, and hearing aids. Seizures are treated with anti-convulsant medications.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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  Clinical history and examination that describes diagnostic features of the impairment; and

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  Genetic testing showing mutations in the SMARCA2 gene.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

110.08 B

111.02

111.09

112.05

112.14

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