You are using an outdated browser. Please upgrade your browser to improve your experience.

Baraitser-Winter cerebrofrontofacial syndrome

Disease Summary
Associated Targets (2)
Tbio

2


GARD Rare
Mondo Description 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.
Disease Ontology Description A syndrome characterized by distinctive facial features including hypertelorism, large eyelid openings, ptosis, high-arched eyebrows, a broad nasal bridge and tip of the nose, a long space between the nose and the upper lip, full cheeks and a pointed chin; structural abnormalities of the brain might also be present.
Mondo Term and Equivalent IDs
MONDO:0017579:  Baraitser-Winter cerebrofrontofacial syndrome
GARD:0005279: 
OMIMPS:243310: 
Orphanet:2995: 
SCTID:702410002: