Baraitser-Winter syndrome is a rare genetic condition that mainly affects the brain and the face. Babies and children with BWS often have a recognizable facial appearance (for example, wide-set eyes and droopy eyelids), and many have structural changes in the brain that can cause learning difficulties, developmental delay, or seizures. Eye and hearing problems are also common. The condition is typically autosomal dominant, meaning a single changed copy of a gene can cause it, and in most families the change is new (de novo) in the child rather than inherited from a parent. BWS results from specific changes in two “actin” genes—ACTB (beta-actin) and ACTG1 (gamma-actin)—that disturb the cell’s internal scaffolding (the actin cytoskeleton) and disrupt early brain and craniofacial development.NCBI+2MedlinePlus+2
Baraitser-Winter syndrome (also called Baraitser-Winter cerebrofrontofacial syndrome) is a rare genetic condition that affects body development, especially the brain and the face. It is caused by harmful changes (variants) in one of two genes: ACTB (beta-actin) or ACTG1 (gamma-actin). These genes help build the cell’s inner support network called the actin cytoskeleton. When actin does not work normally, cells in the brain, eyes, ears, and other organs may not develop correctly. Many people have distinctive facial features, differences in brain structure (like pachygyria or other neuronal migration problems), developmental delay or intellectual disability, seizures, hearing loss, and eye findings such as coloboma. Severity varies a lot from person to person. Diagnosis is confirmed by genetic testing. ERN ITHACA+3NCBI+3Orpha+3
Baraitser-Winter syndrome is a genetic brain-and-body development disorder. A change in the ACTB or ACTG1 gene alters the shape and movement of cells during early growth. This can change the folding of the brain’s surface, the way the eyes and ears form, and the shape of the face. People often have wide-set eyes, droopy eyelids, a broad nose, and sometimes eye coloboma. Many have developmental delay, learning problems, and seizures. Some have hearing loss, short stature, heart or kidney differences, or joint stiffness. Doctors find the diagnosis with a careful exam, brain imaging if needed, and DNA testing of ACTB and ACTG1. Treatment plans are personalized and focus on therapies, education, and managing symptoms safely. NCBI+2Orpha+2
Doctors first described the syndrome in 1988. Since then, clinical reports and gene-discovery studies have shown a pattern: typical facial features, variable degrees of brain “cortical malformation” (often pachygyria or sometimes lissencephaly, where the brain surface is unusually smooth), plus eye colobomas and/or sensorineural hearing loss. Not everyone has every feature, and the severity varies a lot, even within the same diagnosis.NCBI+2Orpha+2
Other names
You’ll find Baraitser-Winter syndrome written under a few related names in medical sources. All point to the same core disorder due to ACTB/ACTG1 variants:
Baraitser-Winter cerebrofrontofacial (BWCFF) syndrome – a widely used term that highlights brain (cerebro-), forehead/face (fronto-facial) features.
Baraitser-Winter neurodevelopmental syndrome – emphasizes effects on brain development.
Baraitser-Winter syndrome type 1 (BWS1) – when the cause is ACTB.
Baraitser-Winter syndrome type 2 (BWS2) – when the cause is ACTG1.NCBI+2National Organization for Rare Disorders+2
Types
Clinicians often keep the umbrella name “Baraitser-Winter cerebrofrontofacial syndrome” and then note the gene involved:
Type 1 (ACTB-related) – changes (usually missense variants) in ACTB.National Organization for Rare Disorders
Type 2 (ACTG1-related) – changes (usually missense variants) in ACTG1.Wiley Online Library
Both types disturb actin dynamics in similar ways, so many features overlap; sometimes there are gene-specific nuances in severity or features across reported families.ERN ITHACA
Causes
Think of “causes” here as the mechanisms and routes by which BWS appears in a child or adult. Each point is a plain-language way of stating a cause or causal pathway that is supported in the literature.
ACTB gene missense variant – a single-letter DNA change that swaps one amino acid in beta-actin, altering how actin filaments form and function. This is a core, proven cause.Nature+1
ACTG1 gene missense variant – a similar change in gamma-actin with parallel effects on cytoskeletal dynamics.Wiley Online Library
De novo mutation – the variant arises for the first time in the child during egg/sperm formation or early embryo development (most cases).NCBI
Autosomal dominant transmission – rarely, the variant is inherited from an affected or mosaic parent.NCBI
Parental mosaicism – a parent carries the variant in some cells (possibly without clear symptoms) and can pass it on.NCBI
Dominant-negative effect – the altered actin protein can interfere with normal actin, disturbing filament networks. (Mechanistic model discussed across actinopathy literature and BWS gene papers.)Nature
Disrupted neuronal migration – actin dysfunction hampers the movement of newborn neurons to their correct cortical locations, leading to pachygyria/lissencephaly.NCBI
Neural crest cell defects – craniofacial structures depend on actin-guided neural crest migration; disruption contributes to facial features.ERN ITHACA
Abnormal eye development – actin changes can disturb closure and layering in the eye, leading to coloboma.NCBI+1
Abnormal inner-ear development – can cause sensorineural hearing loss via hair-cell and cochlear effects.NCBI
Cortical malformation-related epilepsy – malformed cortex increases seizure risk.malacards.org
Muscle development and maintenance issues – actin is fundamental for muscle; some people show shoulder-girdle muscle wasting and hypotonia.NCBI
Cardiac development changes – congenital heart defects are reported in some cases, likely from broader embryonic tissue effects of actin disruption.ERN ITHACA
Kidney/urinary tract anomalies – sporadically reported genitourinary malformations.ERN ITHACA
Skeletal/joint involvement – progressive joint stiffness and contractures appear in some individuals.malacards.org
Endocrine/growth disturbance (selected cases) – short stature and occasional endocrine findings reported in case literature.malacards.org+1
Vascular/connective tissue effects – actin cytoskeleton is key in many cell types; atypical findings may reflect broad tissue roles (case-level evidence).ERN ITHACA
Genotype–phenotype correlation – specific ACTB variants (for example, Pro70Leu) can link to milder or distinct patterns (ongoing research; recent case reports).Nature
Actin network signaling disruption – altered actin affects signaling pathways (e.g., cell shape, division, migration) during organogenesis.ERN ITHACA
Rare familial clustering – when inherited, the same variant explains multiple affected relatives, consistent with dominant genetics.NCBI
Common symptoms and signs
Distinctive facial look – many have widely spaced eyes (hypertelorism), droopy eyelids (ptosis), arched eyebrows, a broad nasal bridge, and a pointed chin. These features help clinicians recognize the syndrome.Orpha+1
Eye coloboma – a “gap” in structures like the iris or retina that can reduce vision or cause sensitivity to light.NCBI
Sensorineural hearing loss – inner ear or auditory-nerve problems that can affect speech and learning if not supported.NCBI
Developmental delay – slower progress in sitting, walking, talking, or learning, with wide variability between individuals.MedlinePlus
Intellectual disability (variable) – ranges from mild to severe, often tied to the extent of brain malformation on imaging.NCBI
Seizures/epilepsy – due to cortical malformations; seizure types and control vary.malacards.org
Structural brain differences – pachygyria or lissencephaly on MRI; sometimes band heterotopias.malacards.org
Microcephaly – head size smaller than expected in some patients.PubMed
Short stature – many children are below average height.malacards.org
Muscle issues – hypotonia (low tone) in infancy; later, shoulder-girdle muscle wasting can appear.NCBI
Joint stiffness/contractures – limited movement due to tight or shortened tissues, sometimes progressive.malacards.org
Feeding difficulties – poor suck, reflux, or slow weight gain in infancy related to tone and coordination. (Common in neurodevelopmental syndromes; also seen across BWS reports.)NCBI
Heart defects (some cases) – such as congenital valve or septal problems, requiring cardiology care.ERN ITHACA
Kidney/uro-genital anomalies (some cases) – may affect kidney shape or function; variable.ERN ITHACA
Behavioral differences – attention, sensory, or social communication differences may occur alongside developmental delays. (Variable; reported across case series.)ERN ITHACA
Note: Not every person with BWS has all these features. The pattern and severity are very individual. Recent case work even shows milder presentations with specific ACTB variants and no lissencephaly.Nature
Diagnostic tests
A) Physical exam (bedside assessments)
Dysmorphology exam – a pediatric geneticist looks closely at facial shape, eyes, eyelids, eyebrows, nose bridge, jawline, and head size to recognize the BWS pattern.NCBI+1
Growth measurements – careful height/weight/head-circumference tracking to spot short stature or microcephaly and to monitor nutrition.malacards.org
Neurologic exam – checks tone, reflexes, coordination, and developmental skills; looks for signs linked to cortical malformations.NCBI
Musculoskeletal exam – assesses shoulder-girdle muscle bulk and joint range to detect wasting or contractures that guide therapy.NCBI+1
Ophthalmologic slit-lamp and fundus exam – an eye doctor checks for coloboma and other eye changes that can affect vision.NCBI
B) “Manual” clinical tests (simple clinic-based maneuvers and checks)
Ptosis/eyelid function tests – gentle measurements of eyelid droop and eye movements (extraocular movements) to document severity and plan supports.Orpha
Vision screening and acuity testing – age-appropriate charts or fixation tests to quantify vision problems from coloboma or refractive error.MedlinePlus
Hearing screening (OAE) in clinic – portable otoacoustic emissions devices screen for inner-ear function; abnormal results lead to full audiology.NCBI
Developmental screening tools – brief checklists (like milestones) to decide whether full developmental testing is needed.MedlinePlus
Joint range-of-motion assessment – goniometer measurements to detect stiffness/contractures and track therapy progress.malacards.org
C) Laboratory and pathological tests
Genetic testing: targeted ACTB/ACTG1 sequencing – directly looks for known disease-causing variants; confirms a clinical diagnosis.Orpha
Exome or genome sequencing (trio preferred) – analyzes many genes at once; especially useful when features are unclear; trio testing clarifies de novo status.Nature
Chromosomal microarray (CMA) – screens for larger deletions/duplications; may be normal in many BWS cases but still part of standard evaluation.NCBI
Parental testing for mosaicism – checks whether a variant is present in a parent at low levels, important for recurrence risk counseling.NCBI
Metabolic labs (as needed) – basic labs (e.g., thyroid, nutrition) if poor growth or feeding issues suggest additional treatable problems alongside BWS. (General management practice in neurodevelopmental disorders.)NCBI
D) Electrodiagnostic tests
EEG (electroencephalogram) – records brain waves to diagnose seizure types and guide anti-seizure therapy when epilepsy is suspected.malacards.org
Auditory brainstem response (ABR) – objective test of hearing pathways from ear to brainstem, helpful in infants and nonverbal children.NCBI
E) Imaging tests
Brain MRI – the key imaging study; shows pachygyria, lissencephaly, or other malformations that explain delays and seizures.NCBI+1
Echocardiogram – ultrasound of the heart if a murmur or congenital heart disease is suspected.ERN ITHACA
Renal/abdominal ultrasound – looks for kidney or urinary tract differences sometimes reported in BWS.ERN ITHACA
Non-pharmacological treatments (therapies & other care)
Early intervention & special education
Description (≈150 words): Early therapy during infancy and preschool years builds core skills during the brain’s most flexible period. Services usually include physiotherapy, occupational therapy, speech and language therapy, vision and hearing support, and developmental educators. Goals include motor milestones (head control, sitting, walking), fine-motor and self-care skills, communication (speech, AAC devices), and social interaction. Programs also teach families how to practice skills at home. School-age supports include individualized education plans (IEPs), classroom accommodations, assistive technology, and behavior supports. Regular re-evaluation adapts goals as the child grows.
Purpose: Improve development and learning.
Mechanism: Repeated, structured practice strengthens neural networks and compensatory pathways. NCBI+1Physiotherapy (PT)
Description: PT maintains range of motion, posture, and strength; it can slow or reduce joint contractures and scoliosis risk. Programs include stretching, positioning, balance, gait training, and adaptive equipment (standers, walkers, orthoses).
Purpose: Preserve mobility and comfort; support safe transfers and walking.
Mechanism: Regular stretching and movement prevent muscle shortening and stimulate motor control. NCBIOccupational therapy (OT)
Description: OT builds fine-motor skills, daily living activities (feeding, dressing), sensory regulation, and environmental adaptations.
Purpose: Independence in daily tasks.
Mechanism: Task-specific training and adaptive tools reduce task demands and improve performance. NCBISpeech-language therapy & augmentative communication
Description: SLPs target speech clarity, language, and swallowing. If speech is limited, AAC (picture boards, tablets) supports communication.
Purpose: Better communication and safer feeding.
Mechanism: Skill practice plus alternative pathways for expressing needs. NCBIFeeding and swallowing therapy
Description: For oral-motor incoordination, therapists adjust textures, pacing, and posture; dietitians optimize calories and nutrients.
Purpose: Safe swallowing, good growth.
Mechanism: Compensatory maneuvers reduce aspiration risk; tailored diets meet energy needs. NCBIHearing rehabilitation
Description: Regular audiology checks; use of hearing aids, bone-anchored devices, or cochlear implants when indicated; listening therapy to maximize benefit.
Purpose: Support speech, learning, and social participation.
Mechanism: Amplification or direct stimulation of the auditory pathway improves sound access. Orpha+1Vision rehabilitation
Description: Low-vision services, patching for amblyopia if appropriate, tinted lenses for glare, and orientation-mobility training.
Purpose: Maximize usable vision and safety.
Mechanism: Optical aids and skills training compensate for visual deficits such as coloboma. NCBISeizure safety education for caregivers
Description: Teach seizure first-aid, rescue plan, and when to call emergency services; discuss water safety and supervision.
Purpose: Reduce injury and anxiety during events.
Mechanism: Preparedness and prompt action minimize risks. NCBIOrthopedic monitoring & bracing
Description: Regular spine and hip checks; braces or orthoses to maintain alignment; referral for surgical review if curves progress.
Purpose: Prevent or limit scoliosis and contractures.
Mechanism: External support redistributes forces during growth. NCBIBehavioral and developmental therapies
Description: Applied behavior strategies, social skills training, and caregiver coaching to manage frustration, sleep problems, or attention issues.
Purpose: Improve daily routines and learning.
Mechanism: Structured reinforcement changes behavior patterns. NCBIPsychological support & caregiver counseling
Description: Counseling for stress, coping, and family planning; peer support groups.
Purpose: Reduce caregiver burden and improve wellbeing.
Mechanism: Evidence-based coping strategies and social support. UniqueGenetic counseling
Description: Explains inheritance (often de novo but sometimes inherited), recurrence risk, and testing options.
Purpose: Informed decisions about family planning.
Mechanism: Risk assessment and education. UniqueVision-related classroom accommodations
Description: Large print, high-contrast materials, preferential seating, extra lighting.
Purpose: Better access to learning.
Mechanism: Reducing visual load improves performance. NCBIHearing-friendly classroom strategies
Description: FM systems, quiet seating, captioning, written instructions.
Purpose: Clearer sound and understanding.
Mechanism: Improves signal-to-noise ratio. MDPISleep hygiene program
Description: Fixed sleep schedule, calming routines, dark and quiet room, limited screens.
Purpose: Better sleep quality and daytime function.
Mechanism: Stabilizes circadian rhythms and reduces arousal. (General pediatric sleep guidance) NCBINutrition planning
Description: Dietitian support for adequate calories, protein, vitamins, and safe textures; manage constipation with fiber and fluids.
Purpose: Healthy growth and energy.
Mechanism: Balanced intake supports brain and muscle function. NCBIPhysical activity & play therapy
Description: Gentle, enjoyable activity (swimming with supervision, adapted sports) to build endurance and mood.
Purpose: Strength, flexibility, and social engagement.
Mechanism: Regular activity improves neuromuscular control and wellbeing. NCBISafety adaptations at home
Description: Seizure-safe bathing, padded edges, gates, and supervision plans; medical ID tags.
Purpose: Prevent injuries.
Mechanism: Environmental control reduces risk. NCBIRegular dental and vision care
Description: Routine cleanings, fluoride, monitoring for enamel or bite issues; scheduled eye checks.
Purpose: Early detection and treatment.
Mechanism: Preventive care avoids complications. NCBICare coordination
Description: Pediatrician, neurologist, clinical geneticist, therapists, audiology, ophthalmology, cardiology, nephrology, orthopedics as needed.
Purpose: One plan, many specialists.
Mechanism: Shared information and scheduled follow-up. NCBI
Drug treatments
Important medical safety note: No medicine is FDA-approved specifically for Baraitser-Winter syndrome. The drugs below are FDA-approved for seizures or spasticity or related symptoms and are often used when those symptoms occur in people with BWS. Dosing must be individualized by the treating clinician, especially in children. Always read the official FDA label and follow your clinician’s instructions. NCBI
Levetiracetam (Keppra / Keppra XR / Spritam) — antiseizure
Class: Broad-spectrum antiseizure medication (ASM).
Usual dosing: Oral 20–60 mg/kg/day divided twice daily (pediatric ranges vary; XR for older patients).
Purpose: Reduce frequency of focal, generalized tonic-clonic, and some myoclonic seizures.
Mechanism: Binds SV2A and modulates neurotransmitter release.
Key side effects: Irritability, somnolence; adjust in renal impairment. (FDA labels) FDA Access Data+3FDA Access Data+3FDA Access Data+3Valproate (valproic acid/valproate sodium; Depakene/Depacon/Stavzor) — antiseizure
Class: Broad-spectrum ASM.
Dosing: Commonly titrated to effect; IV or oral forms.
Purpose: Useful for generalized seizures and mixed types.
Mechanism: Increases GABA; multiple ion-channel effects.
Key warnings: Hepatotoxicity (especially <2 y), teratogenicity, thrombocytopenia. (FDA labels) FDA Access Data+4FDA Access Data+4FDA Access Data+4Lamotrigine (Lamictal) — antiseizure
Class: Sodium-channel modulator.
Dosing: Slow titration to reduce rash risk; dosing varies, lower with valproate.
Purpose: Focal and generalized seizures.
Mechanism: Stabilizes neuronal membranes.
Key warning: Serious skin rashes including SJS/TEN, especially with rapid titration or valproate. (FDA labels) FDA Access Data+2FDA Access Data+2Topiramate (Topamax) — antiseizure
Class: Broad-spectrum ASM.
Dosing: Weight-based titration; sprinkle capsules aid pediatric dosing.
Purpose: Focal and primary generalized tonic-clonic seizures; LGS.
Mechanism: Multiple (GABA-A, AMPA/kainate, carbonic anhydrase inhibition).
Key cautions: Cognitive slowing, metabolic acidosis, kidney stones; effects on bone in pediatric use. (FDA labels) FDA Access Data+2FDA Access Data+2Clobazam (Onfi) — benzodiazepine ASM
Class: 1,5-benzodiazepine.
Dosing: Weight-based; titrate slowly.
Purpose: Adjunctive treatment for LGS; often used as add-on for refractory seizures.
Mechanism: Enhances GABA-A.
Key cautions: Sedation, tolerance, dependence risk. (FDA labels) FDA Access Data+2FDA Access Data+2Lacosamide (Vimpat) — antiseizure
Class: Functionalized amino acid; enhances slow inactivation of sodium channels.
Dosing: Oral/IV; pediatric dosing per label.
Purpose: Partial-onset seizures; sometimes add-on in mixed epilepsy.
Key cautions: PR-interval prolongation, dizziness. (FDA labels) FDA Access Data+2FDA Access Data+2Cannabidiol (Epidiolex) — antiseizure
Class: Plant-derived cannabinoid (purified CBD).
Dosing: mg/kg/day bid; monitor LFTs when combined with valproate.
Purpose: FDA-approved for LGS, Dravet, TSC; sometimes considered for refractory seizures in syndromic epilepsy after specialist review.
Mechanism: Multiple non-CB1 pathways; anticonvulsant effects.
Key cautions: Somnolence, diarrhea, transaminase elevations. (FDA labels) FDA Access Data+1Diazepam nasal spray (Valtoco) — seizure rescue
Class: Benzodiazepine.
Dosing: Weight-based single-use device; home rescue for seizure clusters.
Purpose: Rapid control of intermittent, stereotypic episodes.
Mechanism: Potentiates GABA-A.
Cautions: Sedation, respiratory depression; not for narrow-angle glaucoma. (FDA) FDA Access Data+1Midazolam nasal spray (Nayzilam) — seizure rescue
Class: Benzodiazepine.
Dosing: 5 mg unit-dose; may repeat once per label; monthly maximums apply.
Purpose: Acute treatment of seizure clusters.
Mechanism: Potentiates GABA-A.
Cautions: Sedation; avoid more than recommended frequency. (FDA) FDA Access Data+1Vigabatrin (Sabril) — antiseizure (selected cases)
Class: Irreversible GABA-transaminase inhibitor.
Dosing: Per label; requires REMS due to vision toxicity.
Purpose: Infantile spasms and refractory focal seizures in special contexts.
Cautions: Risk of permanent vision loss; strict monitoring. (FDA) FDA Access Data+2FDA Access Data+2Baclofen (oral; Lyvispah/Ozobax/Fleqsuvy) — spasticity
Class: GABA-B receptor agonist.
Dosing: Start low, titrate slowly; do not stop abruptly.
Purpose: Reduce spasticity and painful muscle stiffness if present.
Cautions: Sedation; withdrawal can cause serious symptoms. (FDA) FDA Access Data+2FDA Access Data+2Baclofen (intrathecal; Lioresal Intrathecal) — severe spasticity
Class: GABA-B agonist delivered to CSF via pump.
Purpose: For patients not controlled with oral therapy.
Cautions: Pump management; overdose/withdrawal can be life-threatening. (FDA) FDA Access Data+2FDA Access Data+2OnabotulinumtoxinA (Botox) injections — focal spasticity
Class: Neurotoxin blocking acetylcholine release.
Dosing: By weight and muscle; repeat every 3–4 months.
Purpose: Reduce focal muscle over-activity, ease care and bracing.
Cautions: Dysphagia/weakness if spread; pediatric labeling exists for upper and certain lower limb spasticity. (FDA) FDA Access Data+2FDA Access Data+2Polyethylene glycol (PEG 3350) — constipation support
Class: Osmotic laxative.
Dosing: Titrate to effect.
Purpose: Manage constipation common in neurologic disorders.
Cautions: Bloating; ensure hydration. (General label class information; clinician-directed.)Proton-pump inhibitor (e.g., omeprazole) — reflux symptom relief
Class: Acid-suppressing agent.
Purpose: For significant GERD that worsens feeding or sleep.
Cautions: Use the lowest effective dose; monitor long-term risks. (General FDA class labeling.)Melatonin — sleep onset aid (OTC in many regions)
Class: Hormone supplement.
Dosing: Low dose 0.5–3 mg typically; clinician guidance advisable in children.
Purpose: Improve sleep onset.
Cautions: Daytime drowsiness; quality varies. (Not an FDA-approved drug product for insomnia in children.)Acetaminophen/ibuprofen — pain/fever management
Class: Analgesic/antipyretic; NSAID.
Purpose: Comfort during illnesses or post-procedures.
Cautions: Dosing by weight; avoid NSAIDs if contraindicated.Rescue benzodiazepine (rectal diazepam) — alternate rescue route
Purpose: Home rescue when nasal options are not used.
Cautions: Sedation; caregiver training needed. (FDA class labeling.)Antisialogogues (e.g., glycopyrrolate) for drooling
Purpose: Reduce excessive saliva that can worsen skin irritation or aspiration.
Cautions: Dry mouth, constipation; specialist oversight.Antiemetics (e.g., ondansetron) for procedure-related nausea
Purpose: Improve tolerance of tests or surgeries.
Cautions: QT prolongation risk.
Again: drug choice and dose are individualized by the treating clinician. None of these is approved “for BWS,” but for symptoms that many people with BWS can have. The clinical approach follows standard epilepsy/spasticity care adapted to the person. NCBI
Dietary molecular supplements
Evidence for supplements in BWS is limited. These are general neuro-nutrition options sometimes considered in neurodevelopmental care. They do not treat the genetic cause. Quality and dosing vary; discuss with your clinician.
Omega-3 fatty acids (EPA/DHA) — may support neurodevelopment and reduce inflammation; typical pediatric doses vary (often 250–500 mg/day DHA+EPA total, clinician-directed). Mechanism: membrane fluidity, anti-inflammatory mediators. (NIH ODS fact-sheet level evidence)
Vitamin D — supports bone health and immunity; dose individualized after measuring levels; mechanism: nuclear receptor signaling affecting calcium and immune cells. (NIH ODS)
Magnesium — cofactor for neuronal excitability; sometimes used in sleep or constipation regimens; mechanism: NMDA modulation and smooth-muscle effects. (NIH ODS)
B-complex (B1, B6, B12, folate) — supports energy metabolism and myelin; dose based on age-appropriate RDAs; mechanism: coenzymes in neurotransmitter synthesis. (NIH ODS)
Coenzyme Q10 (ubiquinone) — mitochondrial cofactor; doses vary (e.g., 2–5 mg/kg/day in divided doses discussed with clinician). Mechanism: electron transport chain support. (NIH ODS)
L-carnitine — shuttles fatty acids into mitochondria; sometimes used when valproate is prescribed or in feeding intolerance; dosing per clinician. Mechanism: beta-oxidation support. (Label and metabolic practice references)
Choline — precursor of acetylcholine and membrane phospholipids; age-based intake targets; mechanism: neurotransmission and membrane synthesis. (NIH ODS)
Probiotics — gut support for constipation or antibiotic-associated diarrhea; strain-specific effects; mechanism: microbiome modulation. (General pediatric GI evidence)
Melatonin (see above) — circadian entrainment; pediatric use is off-label in many regions.
Lutein/zeaxanthin — carotenoids concentrated in retina; theoretical support for eye health; mechanism: antioxidant in macula; evidence in pediatric syndromes is limited. (NIH ODS)
(Because supplements are not disease-specific and quality varies, clinicians usually prioritize food-first nutrition and measured deficiencies.)
Immunity booster / regenerative / stem cell drugs
There are no approved immune-booster, regenerative, or stem-cell drugs for Baraitser-Winter syndrome. No gene therapy or stem-cell therapy has regulatory approval for BWS. Using such products outside a clinical trial can be risky. Supportive immune health focuses on routine vaccinations, nutrition, sleep, and infection prevention. If you see clinics advertising stem cells for BWS, ask your clinician and check trial registries; most such claims are unproven. NCBI+1
Surgeries (when and why)
Ptosis repair (eyelid surgery)
Procedure: Tightening or advancing the levator muscle to lift droopy lids.
Why: Improve visual field, reduce amblyopia risk, and assist development. NCBIStrabismus surgery
Procedure: Resecting/recessing eye muscles to align the eyes.
Why: Better binocular alignment and function; reduce double vision. NCBICochlear implantation (selected cases)
Procedure: Implanted device to stimulate the auditory nerve when hearing aids are insufficient.
Why: Improve access to sound and language when severe sensorineural hearing loss is present. MDPISpine or orthopedic surgery
Procedure: Guided growth, tendon releases, or spinal fusion for progressing deformities or severe contractures.
Why: Pain relief, posture, seating, and function. NCBICleft palate or craniofacial repairs (where present)
Procedure: Multidisciplinary surgical repair.
Why: Improve feeding, speech, and facial function. NCBI
Practical prevention tips
Keep routine vaccinations up to date.
Build a seizure action plan and keep rescue medication accessible.
Use safe feeding strategies and textures to reduce choking.
Schedule regular hearing and vision checks.
Maintain dental care to prevent pain and feeding disruption.
Use nighttime and bathroom safety features to prevent falls.
Encourage daily movement and stretching to limit stiffness.
Use school accommodations (IEP/504) early.
Practice sleep hygiene to support learning and mood.
Arrange care coordination so follow-ups are not missed. NCBI+1
When to see a doctor urgently
New or worsening seizures, prolonged seizures, trouble breathing, blue lips, or unresponsiveness.
Signs of aspiration: coughing with feeds, frequent chest infections, or weight loss.
Rapidly worsening spine curve, new limb weakness, or persistent pain.
Hearing suddenly gets worse or eye symptoms limit vision.
Medication side effects: rash with fever (especially with lamotrigine), unusual bleeding (valproate), severe sleepiness, or behavior change. FDA Access Data+1
Foods to favor and to avoid
What to eat (focus on safety and nutrition):
Soft, well-moistened proteins (fish, lentils, tofu).
Dairy or fortified alternatives for calcium/vitamin D.
Eggs (if tolerated) for choline and protein.
Whole-grain porridges or soft grains for steady energy.
Cooked vegetables (soft) for fiber and micronutrients.
Soft fruits (banana, ripe mango) for vitamins.
Healthy fats (olive oil, avocado) for calories.
Yogurt with live cultures for gut health.
Soups/stews that blend textures for easier swallowing.
Adequate fluids to prevent constipation.
What to avoid or limit (tailor to the person):
Hard, dry foods that crumble (chips, crackers) if chewing is weak.
Sticky foods (peanut butter alone) that can glue to the throat.
Mixed-texture foods (thin liquid with chunks) if aspiration risk.
Very spicy or acidic foods if reflux.
Caffeine close to bedtime.
High-sugar drinks that displace nutrition.
Ultra-processed snacks low in fiber.
Whole nuts/popcorn in young children (choking risk).
Carbonated drinks if cause discomfort.
Any food that worsens constipation—adjust fiber and fluids accordingly. (Feeding therapy best practices) NCBI
Frequently Asked Questions (FAQ)
1) Is Baraitser-Winter syndrome inherited?
Often it is de novo (new in the child), but it can be inherited in an autosomal-dominant pattern if a parent carries the gene variant. Genetic counseling explains risks for future pregnancies. NCBI+1
2) Which genes cause BWS?
ACTB and ACTG1. These make actin proteins used in the cell cytoskeleton. MedlinePlus
3) How is BWS diagnosed?
By clinical features plus genetic testing (ACTB/ACTG1). Brain MRI and hearing/vision tests are often done. Orpha
4) Are there degrees of severity?
Yes. Some have mild learning problems; others have significant developmental and medical needs. NCBI
5) Do all people have seizures?
No. Many do, but not all. Seizure types and control vary. NCBI
6) Is there a cure or gene therapy?
Not at this time. Care focuses on symptoms and development. Unique
7) What is the outlook?
Life expectancy depends on associated medical issues; with good supportive care, many improve skills over time. NCBI
8) What school supports help most?
Early intervention, IEPs, AAC if needed, hearing/vision accommodations, and therapy carryover at home. NCBI
9) Can hearing loss be helped?
Yes—hearing aids or cochlear implants if appropriate; therapy improves outcomes. MDPI
10) What about vision issues?
Low-vision services, glasses, and sometimes surgery (ptosis/strabismus) help function. NCBI
11) Are there special risks with medications?
All ASMs and spasticity drugs have risks; some need labs or EKGs. Discuss interactions (e.g., valproate with lamotrigine increases rash risk). FDA Access Data
12) Can diet change seizures?
Some children with hard-to-control epilepsy benefit from ketogenic or modified diets under specialist care; this requires strict medical supervision. (General epilepsy nutrition practice; clinician-directed.)
13) What imaging findings are common?
Frontal-predominant pachygyria/lissencephaly and other neuronal migration differences can be seen. NCBI
14) Are other organs affected?
Sometimes heart or kidney differences and joint stiffness occur; monitoring is individualized. ERN ITHACA
15) Where can families find reliable information?
GeneReviews, Orphanet, NIH MedlinePlus Genetics, and RareChromo family guides are trusted sources. Unique+3NCBI+3Orpha+3
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The article is written by Team RxHarun and reviewed by the Rx Editorial Board Members
Last Updated: October 17, 2025.
