Living with Baraitser-Winter syndrome
A genetic condition that affects how the face and brain develop, with distinctive facial features and seizures.
Understanding Baraitser-Winter syndrome
An unusual facial appearance is the most common feature. Most people also have brain differences from nerve cells not moving to the right place, most often pachygyria (a smoother brain surface with fewer folds). These can cause intellectual disability that ranges from mild to severe, developmental delay, and seizures. Other features can include short height, hearing loss, heart and kidney differences, and limited joint movement.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Wide-set eyes and droopy eyelids
- Coarse facial features
- Small head size (microcephaly)
- Brain surface differences (such as pachygyria)
- Eye differences such as iris coloboma
- Kidney and urinary tract differences
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, eye disease specialists, genetic specialists and seizure and epilepsy specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Epilepsy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Epilepsy Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in genes (also called variants) cause this condition. It is autosomal dominant, so a change in one copy of a gene can cause it.
Also known as: baraitser-winter cerebrofrontofacial syndrome; cerebrooculofacial lymphatic syndrome; cofl syndrome; fryns-aftimos syndrome; fryns-aftimos syndrome (pachygyria, mental retardation, epilepsy, and characteristic facies)
Patient organizations
- Epilepsy FoundationEpilepsy · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Baraitser-Winter syndrome.
Explore research for Baraitser-Winter syndrome
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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