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Nicolaides-Baraitser Syndrome (NCBRS) (Nicolaides-Baraitser綜合症)

Name of disease:

Nicolaides-Baraitser Syndrome (NCBRS)

ICD-10 diagnosis code:

Nil

Causes:

Most cases of NCBRS, which means they occur in people with no history of the disorder in their family. It is caused by the mutation of SMARCA2 gene on chromosome 9.

Mode of inheritance:

NCBRS can be sporadic or inherited in an autosomal dominant pattern of inheritance.

Prevalence:

Fewer than 200 cases worldwide

Diagnosis:

The diagnosis of NCBRS is based physical examination to assess the featured facial characteristics and other body symptoms Molecular genetic testing for SMARCA2 gene mutation can be used to confirm the diagnosis of patients

Age of onset:

Infancy or neonatal

Common signs and symptoms:

Featured facial characteristics (triangular shaped face, prominent eyelashes, a nose with a broad base, thick nostril) Hair loss Short fingers or toes Development delay Inability to speak Seizure Severe short stature Abnormally small skull Joint dislocation

Available treatments (medicinal and non-medicinal):

N/A

Disease management tips:

N/A

References:

https://rarediseases.info.nih.gov/diseases/270/nicolaides-baraitser-syndrome https://medlineplus.gov/genetics/condition/nicolaides-baraitser-syndrome/

Other useful websites

Patients Group NCBRS Worldwide Foundationhttps://ncbrs-worldwide-foundation.weebly.com