Nicolaides-Baraitser syndrome

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.