Baraitser-Winter cerebrofrontofacial syndrome

Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA)) corresponds to the appearance of BWS in elderly patients.

Also known as: Baraitser-Winter syndrome, BRWS, Fryns-Aftimos syndrome, cerebro-frontofacial syndrome, type 3, iris coloboma with ptosis hypertelorism and intellectual disability, iris coloboma with ptosis hypertelorism and mental retardation, trigonocephaly ptosis coloboma, trigonocephaly ptosis intellectual disability

0 clinical trials for this condition and its sub-types, 0 tagged with Baraitser-Winter cerebrofrontofacial syndrome itself.