IllnessBaraitser-Winter syndrome, differential diagnosis

NGS +

Malformation syndrome with facial dysmorphism (hypertelorism, 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, intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos = FA syndrome) corresponds to the appearance of BWS in elderly patients

• Alias: Cerebrooculofacial lymphatic syndrome
• Alias: Chromosome 7p22 deletion syndrome
• Alias: Fryns-Aftimos syndrome
• Alias: [Baraitser-Winter] cerebrofrontofacial syndrome
• Allelic: Deafness, AD 20/26 (ACTG1)
• Allelic: Dystonia, juvenile-onset (ACTB)
• SY: Iris coloboma, ptosis, hypertelorism, mental retardation, pachygyria, epilepsy
• 3-methylglutaconic aciduria with deafness, encephalopathy + Leigh-like syndrome (SERAC1)
• Aarskog-Scott syndrome (FGD1)
• Baraitser-Winter syndrome 1 (ACTB)
• Baraitser-Winter syndrome 2 (ACTG1)
• Developmental malformations-deafness-dystonia syndrome [MONDO:0011823] (ACTB)
• Elsahy-Waters syndrome (CDH11)
• Facial clefting, oblique, 1 (SPECC1L)
• Intellectual developmental disorder, XL syndromic 16 (FGD1)
• Opitz GBBB syndrome, type II (SPECC1L)
• Teebi hypertelorism syndrome (SPECC1L)
• Teebi hypertelorism syndrome 2 (CDH11)