Nicolaides-Baraitser Syndrome (NCBRS) is associated with a defect in a gene that regulates gene expression, differentiation and development.
Chromosome: 9p24.3
Gene: SMARCA2 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 2)
Inheritance: autosomal dominant
Clinical features:
(1) sparse scalp hair
(2) prominence of interphalangeal joints and distal phalanges due to decreased subcutaneous fat
(3) coarse facial features
(4) microcephaly
(5) seizures, which may be difficult to control
(6) developmental delay and/or intellectual disability
(7) variable lack of speech or language skills
(8) variable skeletal abnormalities (femoral head, pelvis, other)
Facial features:
(1) anteverted nares
(2) long philtrum
(3) wide mouth
(4) thin upper lip vermilion
(5) thick lower lip vermilion
(6) increased skin wrinkling with age
