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Start free with EleplanBaraitser-Winter cerebrofrontofacial syndrome
ORPHA:2995Malformation syndrome
What it is
A rare multiple congenital anomalies/dysmorphic 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. Fryns-Aftimos syndrome (FA; pachygyria, epilepsy, intellectual disability, dysmorphism) corresponds to the appearance of Baraitser-Winter cerebrofrontofacial syndrome (BWS) in elder patients.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Antenatal, Infancy, Neonatal
- Inheritance
- Autosomal dominant, Not applicable
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
37- Aphasia
- Coarse facial features
- Depressed nasal tip
- Downslanted palpebral fissures
- Echolalia
- Epicanthus
- Euryblepharon
- Failure to thrive
- Feeding difficulties
- Full cheeks
- Global developmental delay
- Growth delay
- Highly arched eyebrow
- Hypertelorism
- Intellectual disability
- Iris coloboma
- Lissencephaly
- Long palpebral fissure
- Long philtrum
- Micrognathia
- Mutism
- Osteochondrosis
- Pachygyria
- Pointed chin
- Polymicrogyria
- Prominent metopic ridge
- Ptosis
- Retrognathia
- Seizure
- Short columella
- Skeletal dysplasia
- Specific learning disability
- Telecanthus
- Thin vermilion border
- Wide mouth
- Wide nasal bridge
- Wide nose
Common30–79%
17- Abnormality of the upper urinary tract
- Cerebral cortical atrophy
- Cerebral cortical hemiatrophy
- Delayed cranial suture closure
- Heterochromia iridis
- Hydronephrosis
- Hydroureter
- Joint stiffness
- Large fontanelles
- Long nose
- Low posterior hairline
- Microcephaly
- Prominent nose
- Retinoschisis
- Short neck
- Subcortical cerebral atrophy
- Trigonocephaly
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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