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.
MONDO:0002254
syndromic disease
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0018838
lissencephaly spectrum disorders
is_a
BRWS
related
Baraitser-Winter syndrome
exact
Fryns-Aftimos syndrome
related
cerebro-frontofacial syndrome, type 3
related
iris coloboma with ptosis hypertelorism and intellectual disability
related
iris coloboma with ptosis hypertelorism and mental retardation
related
trigonocephaly ptosis coloboma
related
trigonocephaly ptosis intellectual disability
related
trigonocephaly ptosis mental retardation
related
SPBC32H8.12c