Nicolaides–Baraitser syndrome

Nicolaides-Baraitser syndrome - NCBRS
Other namesNCBRS
This photo shows typical facial features of Nicolaides-Baraitser syndrome, and this features are: Coarce facies, dense eyebrow, enlarged mandible, and drooping lower lip.
Frequency<1 / 1 000 000

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 200 cases worldwide. NCBRS is a distinct condition and well recognizable once the symptoms have been identified.

The differential includes Coffin–Siris syndrome.

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