syndromic disease multiple congenital anomalies/dysmorphic syndrome-intellectual disability Baraitser-Winter cerebrofrontofacial syndrome https://github.com/monarch-initiative/mondo/issues/6744 https://github.com/monarch-initiative/mondo/issues/8085 https://rarediseases.info.nih.gov/diseases/5279/baraitser-winter-syndrome https://www.malacards.org/card/baraitser_winter_cerebrofrontofacial_syndrome https://www.malacards.org/card/baraitser_winter_syndrome UMLS:C1853623 Orphanet:2995 OMIMPS:243310 BRWS iris coloboma with ptosis hypertelorism and mental retardation GARD:0005279 DOID:0060229 MEDGEN:340016 trigonocephaly ptosis mental retardation cerebro-frontofacial syndrome, type 3 SCTID:702410002 MONDO:0017579 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. iris coloboma with ptosis hypertelorism and intellectual disability ICD9:759.89 Fryns-Aftimos syndrome Baraitser-Winter syndrome trigonocephaly ptosis coloboma trigonocephaly ptosis intellectual disability lissencephaly spectrum disorders