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Baraitser-Winter cerebrofrontofacial syndrome
rareBaraitser-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.
- Identifiers
- MONDO:0017579 Orphanet:2995
- Part of
- Lissencephaly spectrum disordersMultiple congenital anomalies/dysmorphic syndrome-intellectual disabilitySyndromic disease
- Also known as
- Baraitser-Winter syndrome · BRWS · cerebro-frontofacial syndrome, type 3 · Fryns-Aftimos syndrome · iris coloboma with ptosis hypertelorism and intellectual disability
Subtypes
| Disease | Subtypes |
|---|---|
| Baraitser-Winter syndrome 1 | |
| Baraitser-winter syndrome 2 |
Rare disease
Projects
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