Nicolaides-Baraitser syndrome, abbreviated NCBRS, is a rare genetic condition caused by de novo missense mutations in the SMARCA2 gene, meaning changes that arise newly in the affected person rather than being inherited. It has been reported in fewer than 330 cases worldwide. The condition is considered distinct and can be recognised reliably once its symptoms have been identified. A related condition linked to changes in the same SMARCA2 gene is Coffin-Siris syndrome, which makes the two a useful pair for readers following how variation in one gene can produce different recognised syndromes.
Facts
Classification
ICD-10 ChapterXVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 1 Communicable or Non-communicable Transmission Route Causative Agent
Causative Agent (category) Prevalence Band Sources
1. Orphadata (Orphanet): Orphadata cross-references for ORPHA:3051 Nicolaides-Baraitser syndrome
Orphadata (Orphanet)ICD-10 cross-referenceQuote, ICD-10 cross-reference
"Reference": "Q87.1", "Source": "ICD-10"
2. National Cancer Institute (NCI Thesaurus): Nicolaides-Baraitser syndrome - NCI Thesaurus concept C205644
National Cancer Institute (NCI Thesaurus)DefinitionQuote, Definition
An autosomal dominant condition caused by mutation(s) in the SMARCA2 gene, encoding probable global transcription activator SNF2L2.
3. Nicolaides-Baraitser syndrome (Wikipedia)
Lead paragraph
rare genetic condition caused by de novo missense mutations in the SMARCA2 gene
Lead
Nicolaides-Baraitser syndrome (NCBRS) is a rare genetic condition caused by de novo missense mutations in the SMARCA2 gene and has only been reported in fewer than 330 cases worldwide.
View the Source4. Orphadata (Orphanet): Orphadata: Epidemiology of rare diseases (en_product9_prev)
Orphadata (Orphanet)ORPHA:3051Quote, ORPHA:3051
Point prevalence Class only <1 / 1 000 000
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