Baraitser-Winter cerebrofrontofacial syndrome
Findings
No curated finding names Baraitser-Winter cerebrofrontofacial syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0017579), read 2026-09-29. CC BY 4.0.
Features
61 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AphasiaHPOHP:0002381
- Very frequent (80% to 99% of cases)
- Coarse facial featuresHPOHP:0000280
- Very frequent (80% to 99% of cases)
- Depressed nasal tipHPOHP:0000437
- Very frequent (80% to 99% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- Very frequent (80% to 99% of cases)
- EcholaliaHPOHP:0010529
- Very frequent (80% to 99% of cases)
- EpicanthusHPOHP:0000286
- Very frequent (80% to 99% of cases)
- Euryblepharon
Show the remaining 49
- Highly arched eyebrowHPOHP:0002553
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Iris colobomaHPOHP:0000612
- Very frequent (80% to 99% of cases)
- LissencephalyHPOHP:0001339
- Very frequent (80% to 99% of cases)
- Long palpebral fissureHPOHP:0000637
- Very frequent (80% to 99% of cases)
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
Other names
1 name
Resolves to: Baraitser-Winter cerebrofrontofacial syndrome
- Also called
- Baraitser-Winter syndrome