/Baraitser-Winter cerebrofrontofacial syndrome

Baraitser-Winter cerebrofrontofacial syndrome

Rare Disease

MONDO:0017579

Also Known As

Baraitser-Winter syndromeBRWSFryns-Aftimos syndromecerebro-frontofacial syndrome, type 3iris coloboma with ptosis hypertelorism and intellectual disabilityiris coloboma with ptosis hypertelorism and mental retardationtrigonocephaly ptosis colobomatrigonocephaly ptosis intellectual disabilitytrigonocephaly ptosis mental retardation

Definition

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.