ErkrankungBaraitser-Winter-Syndrom, Differentialdiagnose

NGS +

Fehlbildungssyndrom mit fazialen Dysmorphien (Hypertelorismus, Ptose,

breite wuchtige Nase, geriffelte Sutura metopica, gebogene Augenbrauen, progressive Gesichtzüge-Vergröberung, Augenkolobom,

Pachygyrie und/oder Band-Heterotopie mit anterior-posteriorem Gradienten, fortschreitende Gelenksteifigkeit, variable mentale Retardierung, oft schwere Epilepsie.

Pachygyrie - Epilepsie - Intellekt-Einschränkung - Dysmorphie (Fryns-Aftimos = FA Syndrom) ähnelt BWS bei älteren Patienten

• 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)