Baraitser-Winder Syndrome Cerebrofrontofacial (BWCFF) Syndrome is a rare disorder with multiple congenital anomalies.
Mutation locations:
(1) Chromosome: 7p22.1 affecting Gene ACTB (actin cytoplasmic 1
(2) Chromosome: 17q25.3 affecting Gene ACTG1 (actin cytoplasmic 2)
Inheritance: autosomal dominant or de novo pathogenic variant
Clinical findings:
(1) intellectual disability
(2) developmental delay
(3) wasting of the shoulder girdle muscles
(4) ocular coloboma
(5) sensorineural deafness
(6) seizures
(7) congenital heart defect
(8) renal malformations
(9) gastrointestinal dysfunction
(10) pachygyria, lissencephaly or microlissencephaly
(11) microcephaly
Facial features:
(1) widely spaced eyes
(2) bilateral ptosis
(3) flat malar region
(4) retrognathia
(5) pointed chin
(6) prominent metopic ridging
(7) downslanted palpebral fissures
(8) lagophthalmos
(9) small ear with thick helix and underdeveloped antihelix
(10) prominent nasal bridge
(11) long, thin philtrum
(12) thin vermilion border of the upper lip
(13) everted vermilion of the lower lip
(14) cleft lip and palate
(15) wide mouth
