Baraitzer-Winter cerebrofrontofacial syndrome
Også kjent som: BaraitserWinter syndrom
Engelsk navn: Baraitser-Winter cerebrofrontofacial syndrome
Definisjon
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); see this term) corresponds to the appearance of BWS in elderly patients.
Fra Orphanet
ORPHA: 2995
Klassifiseringsnivå: Disorder
ICD-10: Q87.0
