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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessBaraitser-Winter syndrome, differential diagnosis


Short information

2 or 6 curated single gene sequence analyses according to the clinical suspicion Baraitser-Winter syndrome

Number of genes
3 Accredited laboratory test
Examined sequence length
2,3 kb (Core-/Core-canditate-Genes)
5,7 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications



Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity

Informations about the disease

Clinical Comment

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)
Heredity, heredity patterns etc.
  • AD
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined