[MIM 601 358]

Very rare. Mutation of SMARCA2 gene (80% of cases) that plays an important role in the expression of other genes and in the central nervous system development.

Association of:

-        short stature

-        brachydactyly with thick interphalangeal joints

-        facial dysmorphism: rare hair, drooping eyelids, thick nasal wings, malar hypoplasia, fleshy lips, prognathism in adolescence.

-        moderate to severe mental retardation; difficulties in speech acquisition.

-        severe epilepsy

-        sometimes scoliosis

Anesthetic implications:

short stature, treatment-resistant epilepsy. Risk of difficult intubation.

References :

-        Ejaz R, Babul-Hirji R, Chitayat D.
The evolving features of Nicolaides-Baraitser syndrome- a clinical report of a 20-year follow-up.
Clinical Case Reports 2015; 351-5 

-        Goehring M, Choorapoikayil S, Zacharowski K, Messroghli L.
Anaesthesia and orphan disease: management of a case of Nicolaides- Baraitser syndrome undergoing cleft palate surgery.
BMC Anesthesiology 2021; 21:162  doi.org/10.1186/s12871-021-01380-z

Updated: June 2023