Baraitzer-Winter cerebrofrontofacialt syndrom

Definisjon

A rare multiple congenital anomalies/dysmorphic 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. Fryns-Aftimos syndrome (FA; pachygyria, epilepsy, intellectual disability, dysmorphism) corresponds to the appearance of Baraitser-Winter cerebrofrontofacial syndrome (BWS) in elder patients.