Bainbridge-Ropers syndrome (BRS) is a rare genetic condition that affects how a child develops from birth onward. It mainly causes developmental delay or intellectual disability, very delayed or absent speech, low muscle tone (hypotonia), feeding problems, and characteristic facial features. Most children are affected because of a new (“de novo”) change in a single gene called ASXL3. That gene helps control how other genes turn on and off during early growth, especially in the brain. When ASXL3 does not work properly, many body systems—especially the nervous system—do not develop as expected. NCBI+2National Organization for Rare Disorders+2
Bainbridge–Ropers syndrome (BRS)—also called ASXL3-related disorder—is a rare, genetic neurodevelopmental condition caused by a harmful change (pathogenic variant) in the ASXL3 gene. Children typically show global developmental delay or intellectual disability, very limited or absent speech, low muscle tone (hypotonia) that may later shift to stiffness (spasticity), feeding difficulties (often with reflux), poor weight gain in infancy, sleep problems, and sometimes seizures. Eye problems (like strabismus), skeletal issues (such as scoliosis or chest wall shape differences), and behavioral features including autistic traits are common. Diagnosis is confirmed by molecular genetic testing that identifies a pathogenic ASXL3 variant. Most variants are de novo (new in the child), but inheritance can rarely occur; genetic counseling is recommended. There are no formal consensus guidelines yet, and treatment is supportive across nutrition, development, neurology, sleep, and orthopedics. NCBI
Scientists first recognized BRS as a separate syndrome in 2013. Since then, case series and reviews have described the typical signs and how the exact gene changes lead to the condition. Research shows most harmful ASXL3 variants are loss-of-function changes (for example truncating variants) that reduce the working amount of the ASXL3 protein. This “haploinsufficiency” disrupts chromatin regulation (the way DNA is packaged and controlled) during development. PubMed+2Nature+2
Other names
Bainbridge-Ropers syndrome is also called ASXL3-related disorder, ASXL3 syndrome, or simply ASXL3 haploinsufficiency. Some resources use BRPS as the short form. All these names refer to the same condition caused by disease-causing changes in the ASXL3 gene. NCBI+1
Types
Doctors do not divide BRS into strict “types” the way they do for some other conditions. Instead, they recognize a spectrum of severity and features. Helpful ways to think about “types” are:
1) By genetic variant class.
Most individuals have truncating (loss-of-function) variants that lead to too little ASXL3 protein; fewer have missense or splice-site variants. Truncating variants are the classic pattern; missense changes are less common and may produce somewhat different or milder patterns, but both can cause the syndrome. Nature+1
2) By inheritance pattern.
Most cases are de novo (the change starts with the affected child), but inherited cases can occur (including parental mosaicism), and the condition follows autosomal dominant inheritance when passed on. NCBI+1
3) By clinical severity.
Features range from moderate to severe developmental impairment (with absent or very limited speech) to milder presentations where some skills are stronger. Sleep and behavior issues (including autistic features) can vary widely. NCBI+1
These “types” are descriptive, not official labels, but they help families and clinicians understand the range of presentations and needs. White Rose Research Online
Causes
BRS has one root cause—a disease-causing change in ASXL3—but research explains many mechanisms that contribute to how and why the condition occurs and what it looks like. Below are 20 evidence-based items, each explained in simple English:
ASXL3 loss-of-function (LoF).
Most children have a truncating (stop-early) change that leaves them with too little working ASXL3. One working copy is not enough (“haploinsufficiency”), which leads to BRS. NatureDe novo variants.
In most families, neither parent carries the change; it arises spontaneously in the child’s egg or sperm cell or very early after conception. NCBIAutosomal-dominant inheritance when familial.
If a parent carries a disease-causing ASXL3 variant (including mosaicism), there is a 50% chance of passing it to each child. NCBIDisrupted chromatin regulation.
ASXL3 helps control the packaging and accessibility of DNA. When it fails, many genes involved in brain and body development are mistimed or mis-set. PMC+1PR-DUB complex dysfunction.
ASXL3 works in the polycomb deubiquitinase (PR-DUB) complex that removes a tag on histone H2A (H2AK119Ub). Losing ASXL3 alters this tag and disrupts gene control. PMC+1H2AK119Ub dysregulation.
Direct studies show ASXL3 variants change levels of the H2A ubiquitin mark, which changes the “on/off” state of many developmental genes. PMCNeural patterning disturbance.
Animal models show early brain patterning needs correct ASXL3 activity; without it, brain development tracks differently, leading to hypotonia, developmental delay, and other features. FrontiersSynaptic and neuronal network effects.
When early gene programs shift, later wiring of brain circuits for speech, language, and behavior is affected. This helps explain absent speech and autistic traits in many individuals. (Inference grounded in chromatin-to-neural development pathway.) NCBIDisturbed growth signaling.
BRS often includes poor weight gain and short stature. Growth can be affected by feeding challenges and by underlying developmental signaling changes. National Organization for Rare DisordersFeeding and oromotor dysfunction.
Low muscle tone and coordination difficulties in the mouth and throat can cause reflux, choking, or slow feeding, contributing to failure to thrive. NCBISleep regulation differences.
Many families report sleep problems. Differences in brain circuitry and behavior regulation likely contribute. BioMed CentralBehavioral regulation differences (autistic features).
Chromatin regulation genes are commonly linked to neurodevelopmental conditions; ASXL3 changes often bring autistic traits, sensory differences, or self-injury. NCBI+1Splicing defects.
Some variants affect how the ASXL3 gene is spliced, which can reduce correct protein or create truncated protein. White Rose Research OnlineMissense variant effects.
Less common missense changes can alter ASXL3 function or interactions inside the chromatin complex, with variable clinical impact. White Rose Research OnlineGene dosage sensitivity.
ASXL3 is dosage-sensitive; too little protein is enough to alter development, even when one copy is normal. NatureRare copy-number changes at ASXL3.
Rare deletions disrupting ASXL3 can mimic truncating variants by removing essential parts of the gene. (Reported in phenotype summaries.) OrphaTissue-wide impact.
ASXL3 is active in many tissues. That is why features can extend beyond the brain to feeding, bone, eye, and spine issues. Simons SearchlightVariant-specific expressivity.
Different variants in different exons or domains can produce overlapping but not identical patterns—helping explain person-to-person variation. White Rose Research OnlineNonsense-mediated decay (NMD).
Many truncating variants trigger NMD, reducing faulty ASXL3 mRNA and effectively lowering protein levels. This is a common mechanism in loss-of-function disorders. NaturePathway ripple effects.
When ASXL3-PR-DUB signaling shifts, downstream pathways (for example, those governing neuronal differentiation) can be broadly affected, amplifying the clinical picture. (Mechanistic synthesis from chromatin studies.) PMC+1
Common symptoms and features
1) Global developmental delay / intellectual disability.
Most children learn skills later than peers. Many have moderate to severe impairment, with delays in sitting, walking, and learning. NCBI
2) Very delayed or absent speech.
Speech is the most striking difficulty in many children. Some remain minimally verbal; others gain a small number of words or signs with therapy. NCBI
3) Hypotonia (low muscle tone).
Babies feel “floppy,” and older children can tire easily and need extra support for posture and movement. National Organization for Rare Disorders
4) Feeding problems and reflux.
Slow feeding, choking, reflux, and poor weight gain are common, especially in infancy. Some children need temporary tube feeding. National Organization for Rare Disorders
5) Failure to thrive / postnatal growth delay.
Because of feeding challenges and developmental differences, many children grow more slowly and can be smaller than peers. Wikipedia
6) Sleep disturbance.
Getting to sleep and staying asleep can be difficult, which also affects daytime attention and behavior. BioMed Central
7) Autistic features and behavioral differences.
Social communication differences, repetitive behaviors, sensory sensitivities, and sometimes self-injury can occur. Evidence-based behavioral therapy can help. NCBI+1
8) Distinctive facial features.
Features can include a wide mouth, full lower lip, high-arched palate, long nose with a broad bridge, and high-arched eyebrows. Not every child has the same pattern. cdn.simonssearchlight.org
9) Eye/vision issues.
Strabismus or refractive errors may be present and should be screened early so that glasses or other treatments can support learning. NCBI
10) Skeletal or spine issues (e.g., scoliosis).
Low tone and growth differences can contribute to scoliosis or joint laxity; routine orthopedic checks are sensible. NCBI
11) Seizures (in a subset).
Not all children have seizures, but they do occur. If there are spells of staring, stiffening, or unusual movements, an EEG is useful. NCBI
12) Gastrointestinal constipation.
Slow gut movement and low tone can lead to constipation, which can worsen feeding and sleep; dietary and medical support often help. National Organization for Rare Disorders
13) Dental/crowding issues and high-arched palate.
Mouth anatomy can make feeding, speech, and dental care harder; early dental care and a feeding/speech team are helpful. cdn.simonssearchlight.org
14) Short stature or small head size (in some).
Some children have shorter height and/or microcephaly; growth should be tracked regularly. Wikipedia
15) Variable motor milestones.
Walking may be delayed; some children need orthotics, physiotherapy, and adaptive equipment to support mobility and safety. National Organization for Rare Disorders
Diagnostic tests
Important: Diagnosis is made by a genetic test that identifies a disease-causing ASXL3 variant. Other tests help define needs and monitor health. Orpha
A) Physical examination
1) Detailed growth and dysmorphology exam.
A clinician records height, weight, and head size on growth charts, and looks for facial patterns seen in BRS. This guides the suspicion for ASXL3 testing and helps track nutrition and growth over time. NCBI
2) Neurologic tone and reflex assessment.
The doctor checks tone (how tight/loose muscles feel), reflexes, coordination, and gross/fine motor skills. Findings of hypotonia and delayed milestones support the clinical picture. NCBI
3) Developmental screening and cognitive testing.
Age-appropriate tools measure motor, language, and problem-solving skills. These show where support is needed and establish a baseline for therapies. NCBI
4) Feeding and oromotor evaluation.
Bedside feeding checks look for choking, coughing, slow swallowing, or reflux signs. Early recognition prevents poor weight gain. National Organization for Rare Disorders
5) Behavioral/ASD assessment.
Standardized tools screen for autistic features, sleep concerns, and behavior challenges so that behavioral therapy can start early. NCBI
B) Manual/clinical functional tests
6) Speech-language evaluation.
A therapist evaluates expressive/receptive language, oral motor abilities, and alternative/augmentative communication (AAC) needs. This guides a practical communication plan. NCBI
7) Physiotherapy and occupational therapy assessments.
Therapists measure strength, balance, posture, and daily living skills, then tailor exercises and equipment. National Organization for Rare Disorders
8) Vision assessment by orthoptist/optometrist.
Checks for refractive errors and strabismus (eye alignment). Early treatment supports learning and safety. NCBI
9) Feeding/swallow study referral (clinical step before imaging).
A clinician determines whether an instrumental swallow study is needed (see Imaging #18) based on observed signs such as cough with feeds. National Organization for Rare Disorders
10) Behavior analysis for self-injury.
A board-certified behavior analyst can run a structured assessment to identify triggers for self-injury and design reinforcement-based interventions. PMC
C) Laboratory and pathological tests
11) Chromosomal microarray (CMA).
Often a first-line genetic test in developmental delay to look for gains/losses of DNA segments; can sometimes detect deletions that disrupt ASXL3. Many families proceed directly to sequencing. Orpha
12) Single-gene sequencing of ASXL3.
Reads the ASXL3 letters to find small variants (truncating/missense/splice). This confirms the diagnosis when a disease-causing variant is found. Orpha
13) Trio exome or genome sequencing.
Sequencing the child and both parents improves detection of de novo variants and clarifies uncertain results—now common in unexplained developmental delay. Frontiers
14) Deletion/duplication (CNV) analysis for ASXL3.
If sequencing is negative but suspicion remains high, targeted CNV testing checks for exon-level deletions/duplications that inactivate ASXL3. Orpha
15) Targeted panels for neurodevelopmental genes.
Some clinics use multigene panels that include ASXL3; positive results still require clinical correlation and genetic counseling. NCBI
D) Electrodiagnostic tests
16) EEG (electroencephalogram).
If there are possible seizures—or spells of staring or stiffening—EEG can detect patterns of epilepsy and guide treatment. NCBI
17) EMG/nerve studies (selected cases).
Most children do not need these, but in unusual cases with profound weakness or to rule out other causes of hypotonia, clinicians may consider them. NCBI
18) Polysomnography (sleep study).
When sleep problems are severe—or if snoring, apneas, or unusual night movements occur—a sleep study can guide treatment for better rest and daytime function. BioMed Central
E) Imaging tests
19) Brain MRI.
MRI can be normal or show nonspecific findings; it helps exclude other structural brain conditions and can guide therapy planning. NCBI
20) Videofluoroscopic swallow study (VFSS) or FEES.
For children with choking, coughing, or suspected aspiration, an instrumental swallow study shows how safely liquids and foods pass, guiding feeding therapy and textures. National Organization for Rare Disorders
Non-pharmacological treatments (therapies & other supports)
These approaches build skills, reduce complications, and improve comfort and participation. They are the backbone of care in BRS.
Early developmental therapy (0–3 years).
An early-intervention program coordinates physiotherapy, occupational therapy, and speech therapy soon after diagnosis. Early, frequent, family-centered sessions help motor skills, self-help, and communication, even when progress is slow, and they also guide parents on home activities. Programs should be individualized and revisited as needs change. NCBIFeeding therapy & safe-swallow strategies.
A speech–language therapist with feeding expertise and an occupational therapist can assess sucking, chewing, and swallowing, and teach texture modification, pacing, and positioning. Videofluoroscopic swallow studies or clinical feeding evaluations help prevent aspiration and guide safe nutrition plans. NCBINutrition support & growth monitoring.
Because early growth often falters due to feeding difficulty and reflux, regular checks of weight/length and calorie intake are essential. Dietitians can fortify feeds, recommend higher-calorie textures, and manage reflux-triggering patterns; many children stabilize growth once feeding problems are addressed. NCBIGastrostomy (G-tube) consideration as a supportive measure.
When oral feeding remains unsafe or insufficient despite therapy, a G-tube can provide reliable calories, fluids, and medications; it can be temporary or long-term. Families often report reduced mealtime stress and better growth after tube feeding is established. NCBIPhysiotherapy for tone, posture, and mobility.
Early hypotonia can delay sitting and standing; later, spasticity and contractures may appear. A physiotherapist promotes stretching, strengthening, orthoses, and equipment (standers, walkers) to maintain range, comfort, and participation. NCBIOccupational therapy (fine motor & daily living).
OT targets hand use, sensory processing, and daily routines (feeding, dressing, play). Adaptive tools and positioning techniques often improve independence and reduce frustration for both child and caregivers. NCBISpeech–language therapy with AAC (augmentative & alternative communication).
Because most individuals have very limited speech, early AAC—such as picture exchange, communication boards, or speech-generating devices—lets children express wants and needs and can tap stronger receptive language than expressive speech. NCBIBehavioral support & autism-informed strategies.
Up to half meet criteria for autism or show autistic traits. Structured routines, visual schedules, communication supports, and caregiver training help reduce anxiety, self-injury, or sensory-related behaviors and support learning. NCBISleep hygiene & evaluation for sleep-disordered breathing.
Sleep problems are common. Consistent sleep routines, light control, and behavioral sleep strategies help; screening for snoring or apnea is important because treating airway issues improves daytime function. NCBIOphthalmology care.
Regular eye assessments (at least yearly) identify refractive errors and strabismus. Early correction (glasses, patching, or surgery when indicated) supports development, navigation, and learning. NCBIDentistry & oral-motor care.
Dental anomalies and bruxism can occur. Starting dental visits by age three (or earlier if problems arise), fluoride use, and protective strategies for grinding help comfort and oral health. NCBIOrthopedics & seating/positioning.
Scoliosis, chest wall shape changes, and contractures may develop. Early bracing, custom seating, and regular spine checks can slow progression and improve comfort and breathing mechanics. NCBICommunity physiotherapy & hydrotherapy.
Low-impact, warm-water exercise improves range of motion and comfort for mixed tone (hypotonia with areas of spasticity), supporting mobility goals in a fun, motivating setting. UniqueEducational supports & individualized education plans.
Most children need special education services; some may attend mainstream settings with support. Teaching should favor multi-sensory methods, AAC, and predictable routines. NCBICare coordination & surveillance plan.
Regular, multidisciplinary reviews track growth, development, behavior, seizures, tone/contractures, sleep, dental, and vision needs, catching problems early and avoiding crisis care. NCBISocial work & family mental-health support.
Caring for a child with complex needs is demanding. Connecting families to respite services, rare-disease networks, and counseling can protect caregiver well-being and improve long-term outcomes. National Organization for Rare Disorders+1Genetic counseling for family planning.
Most cases are de novo, but recurrence risk is not zero due to possible germline mosaicism. Families can discuss prenatal and preimplantation options once the familial variant is known. NCBITransition planning (adolescence to adulthood).
As youth age, planning for assisted living, vocational supports, and adult medical care maintains continuity and quality of life. NCBIClinical-study participation where appropriate.
Natural-history registries help families connect and speed research; they do not replace standard care but can inform future therapies. ClinicalTrialsPeer and advocacy organizations.
Condition-specific groups provide education, practical tips, and community—valuable for rare disorders with evolving knowledge. ARRE Foundation+1
Drug treatments
Medication choices are individualized. Doses must be prescribed and adjusted by the treating clinician based on age, weight, comorbidities, and response.
Epilepsy (about one-third of individuals): Standard anti-seizure medications are used; there is no ASXL3-specific regimen.
Levetiracetam.
Often a first-line agent for focal or generalized seizures in children; easy titration and minimal drug interactions. Families should watch for behavioral irritability, which may improve with dose adjustments. Purpose: reduce seizure frequency; Mechanism: modulates synaptic vesicle protein SV2A. NCBIValproate (sodium valproate).
Broad-spectrum efficacy for generalized seizures and absences. Monitoring includes liver function and platelets; avoid in pregnancy due to teratogenicity. Mechanism: enhances GABAergic tone and inhibits voltage-gated channels. NCBILamotrigine.
Useful for generalized and focal seizures and may help mood stability; titrate slowly to reduce rash risk. Mechanism: inhibits voltage-dependent sodium channels and glutamate release. NCBIClobazam.
Adjunctive therapy for refractory seizures; sedation and tolerance are possible; periodic reassessment is advised. Mechanism: benzodiazepine positive allosteric modulation of GABA-A. NCBIRescue benzodiazepine (buccal/IN midazolam or rectal diazepam).
Home rescue for prolonged seizures per neurologist’s plan; caregivers need training on indications and timing. NCBI
Tone & movement (hypotonia with later spasticity/contractures):
Oral baclofen.
Helps spasticity and associated discomfort; watch for sedation or hypotonia; dosing is gradual. Mechanism: GABA-B agonist decreasing spinal reflexes. NCBITizanidine (selected cases).
Adjunct for spasticity when baclofen insufficient or poorly tolerated; monitor liver enzymes and somnolence. Mechanism: alpha-2 adrenergic agonism reducing polysynaptic reflexes. NCBIBotulinum toxin injections to focal muscles.
For focal contractures or drooling; effects last ~3–4 months; combines well with therapy and splinting. Mechanism: blocks acetylcholine release at neuromuscular junctions. NCBI
Feeding & reflux:
Proton-pump inhibitor (e.g., omeprazole).
Improves esophagitis and painful reflux that worsen feeding; reviewed periodically to avoid long-term overuse. Mechanism: blocks gastric H+/K+ ATPase. NCBIH2-receptor blocker (e.g., famotidine).
Alternative or step-down from PPIs for milder reflux; monitor efficacy and need for ongoing therapy. Mechanism: histamine-2 receptor antagonism reducing acid secretion. NCBIPro-kinetic approaches (specialist-guided).
In selected cases with delayed gastric emptying, clinicians may consider options (e.g., low-dose erythromycin) short-term with careful monitoring. NCBI
Constipation & GI comfort:
Polyethylene glycol (PEG).
Safe first-line osmotic laxative to keep stools soft and reduce abdominal pain that can aggravate feeding aversion. NCBIStool softeners or stimulant laxatives (as needed).
Used per pediatric guidance for persistent constipation alongside fiber/fluids and toileting routines. NCBI
Drooling & secretions (sialorrhea):
Glycopyrrolate.
Reduces problematic drooling that contributes to skin breakdown or aspiration risk; monitor for constipation or thickened secretions. Mechanism: anticholinergic. NCBITransdermal scopolamine (selected cases).
Short-term or intermittent use for troublesome drooling with attention to anticholinergic side effects. NCBI
Behavior, attention, irritability:
Melatonin (sleep-onset aid).
Improves sleep initiation as part of a behavioral sleep plan; clinical oversight ensures dose and formulation selection. NCBIAlpha-2 agonists (clonidine/guanfacine).
Sometimes used for hyperactivity, impulsivity, or sleep maintenance; monitor blood pressure and sedation. NCBIRisperidone or aripiprazole (irritability in ASD).
When severe irritability or self-injury threatens safety, these FDA-approved ASD medications may be considered with close metabolic and movement-side-effect monitoring. NCBI
Bone & general health:
Vitamin D and calcium (if deficient).
Addressing low stores supports bone health, especially with limited mobility or feeding difficulties; testing guides supplementation. NCBIAnalgesics (e.g., acetaminophen/ibuprofen as appropriate).
Used intermittently for pain from contractures, dental issues, or intercurrent illness; always dose per pediatric guidance. NCBI
Dietary “molecular” supplements
Use only under clinician/dietitian guidance. Evidence is supportive/symptom-based, not ASXL3-specific.
Energy-dense formulas or modulars.
Adding calorie boosters (e.g., carbohydrate or fat modulars) helps catch-up growth when volume is limited by fatigue or reflux; careful titration avoids worsened reflux. NCBIThickening agents for dysphagia.
Appropriate thickeners (as advised after swallow study) improve oral control and reduce aspiration risk during liquids. NCBIMedium-chain triglyceride (MCT) oil.
MCTs are easier to absorb and can raise caloric density without large volume increases; monitoring prevents GI side effects. NCBIFiber blends (soluble/insoluble).
Fiber supports bowel regularity with PEG; the balance is tailored to avoid gas/bloating. NCBIProbiotics (case-by-case).
May help functional constipation or antibiotic-associated diarrhea; specific strains and durations are chosen by clinicians. NCBIVitamin D (if low).
Supports bone health; dosing is based on measured levels and diet; routine lab follow-up is recommended. NCBICalcium (if dietary intake is inadequate).
Complements Vitamin D to maintain bone strength, particularly with limited weight-bearing. NCBIIron (only if iron-deficient).
Treating deficiency can improve sleep quality, energy, and behavior in some children; excess iron can be harmful, so testing is required first. NCBIMultivitamin/mineral (diet gaps).
Fills micronutrient gaps when selective eating or tube feeding limits variety; formulas are chosen to match age and medical needs. NCBIOmega-3 fatty acids (dietitian-guided).
Sometimes used for general health; evidence for neurodevelopmental benefit is mixed; use should not replace core therapies. NCBI
About “immunity booster, regenerative, or stem-cell drugs
There are no approved immune-booster, regenerative, gene, or stem-cell drugs for BRS. Reputable sources emphasize supportive care and participation in natural-history studies to accelerate research. Families should avoid unproven “stem-cell” or “regenerative” claims marketed online. When you see those terms, discuss them with your clinical team and check ClinicalTrials.gov for legitimate studies. Vaccinations per national schedules remain the safest, proven way to prevent infections and protect health in this community. NCBI+1
Surgeries
Gastrostomy tube placement.
A minor surgery to place a feeding tube through the abdomen into the stomach when oral intake is unsafe or inadequate. It provides consistent nutrition, hydration, and a route for medicines, helping growth and reducing aspiration risk. NCBIAnti-reflux surgery (e.g., Nissen fundoplication) in select cases.
When severe reflux persists despite optimized medical and feeding therapy, surgical reinforcement of the valve between the esophagus and stomach can reduce vomiting, pain, and aspiration events. NCBIStrabismus surgery.
Realigns eye muscles when non-surgical methods fail, supporting vision development, depth perception, and comfort. NCBIOrthopedic soft-tissue procedures (contracture release/tendon lengthening).
For fixed contractures that limit care or cause pain, targeted releases improve hygiene, positioning, and tolerance of orthoses; always paired with therapy afterward. NCBISpinal surgery for progressive scoliosis (selected adolescents).
When curves progress despite bracing and affect function or breathing mechanics, spinal fusion or growth-friendly techniques may be considered by a pediatric spine team. NCBI
Prevention tips
Keep routine vaccinations up to date to prevent avoidable infections. NCBI
Use safe-swallow strategies and reflux control to reduce aspiration. NCBI
Maintain dental and vision check-ups to prevent secondary problems. NCBI
Follow a contracture-prevention program (daily stretches, orthoses, positioning). NCBI
Build a behavioral routine for sleep and daytime transitions to limit crises. NCBI
Nutrition plans with a dietitian to avoid malnutrition or micronutrient gaps. NCBI
Monitor growth at each visit; intervene early if weight or height falters. NCBI
Seizure action plan at home/school, including rescue steps. NCBI
Regular surveillance (neurology, rehab, sleep, eyes/teeth/orthopedics). NCBI
Genetic counseling for future pregnancies. NCBI
When to see a doctor urgently vs. routinely
See your clinician urgently for breathing trouble, bluish lips, severe vomiting with dehydration, suspected aspiration (coughing or choking during meals with fever), prolonged or new-type seizures, rapid spine or joint changes, or sudden worsening sleep with snoring/apnea. Schedule routine follow-ups for growth checks, feeding/therapy reviews, dental and eye visits, seizure control reviews, sleep concerns, and contracture surveillance; these are usually every 3–12 months depending on age and needs. NCBI
What to eat and what to avoid
What to emphasize: energy-dense foods and formulas to meet calorie needs; safe textures as recommended after swallowing assessment; regular fluids and fiber for bowel health; adequate calcium and vitamin D (diet or supplements if prescribed); small, frequent meals if reflux is an issue. What to limit/avoid: foods that worsen reflux for your child (e.g., very acidic or spicy items), hard-to-chew textures if chewing is weak, and excessive empty-calorie beverages that displace needed nutrition. Every plan should be individualized; growth and comfort guide changes. NCBI
Frequently asked questions
What causes BRS?
A pathogenic variant in the ASXL3 gene, usually de novo, disrupts normal development of the brain and other systems. NCBIHow is it diagnosed?
By finding a heterozygous pathogenic/likely pathogenic variant in ASXL3 on molecular testing (often via exome or multigene panels after chromosomal microarray). NCBIIs there a cure?
No curative therapy yet. Care focuses on development, nutrition, seizures, sleep, vision, dental, and orthopedic health. NCBIWhat are the common features?
Severe speech delay/absence, intellectual disability, hypotonia/spasticity, feeding difficulty with poor early growth, sleep disturbance, seizures (~1/3), eye and skeletal issues, and autistic traits. NCBIWill my child ever talk?
Some acquire words or short phrases; many communicate best through AAC. Receptive language may be stronger than expressive language. NCBIHow common is it?
Exact prevalence is unknown; with wider exome testing, more individuals are being recognized worldwide. NCBIIs BRS inherited?
Usually not; most are de novo. Rarely, a parent may carry the variant (including possible germline mosaicism), so genetic counseling is advised. NCBIWhat about autism in BRS?
About half meet criteria for ASD or show autistic traits; autism-informed supports help communication and behavior. NCBIDo brain scans show typical changes?
Most individuals have normal brain MRI; seizures can still occur and are treated using standard protocols. NCBIAre there consensus treatment guidelines?
No formal consensus guidelines yet, but GeneReviews summarizes current best practices across systems. NCBIAre sleep problems part of BRS?
Yes, sleep disturbance is common; improving sleep hygiene and evaluating for apnea can help. NCBIWhere can we find trusted information and community?
NORD, GARD, and ASXL-focused foundations maintain up-to-date educational resources and community connections. National Organization for Rare Disorders+2Genetic Rare Disease Center+2Is research happening?
Yes—natural-history and phenotyping studies are underway and critical for future trials. Families can explore options at ClinicalTrials.gov. ClinicalTrialsDoes BRS affect organs other than the brain?
Skeletal features and occasional other system findings are reported; multidisciplinary monitoring is advised. NCBIWhat is the long-term outlook?
Most individuals require lifelong supports and some level of assisted living in adulthood; early, coordinated therapy maximizes skills and comfort. NCBI
Disclaimer: Each person’s journey is unique, treatment plan, life style, food habit, hormonal condition, immune system, chronic disease condition, geological location, weather and previous medical history is also unique. So always seek the best advice from a qualified medical professional or health care provider before trying any treatments to ensure to find out the best plan for you. This guide is for general information and educational purposes only. Regular check-ups and awareness can help to manage and prevent complications associated with these diseases conditions. If you or someone are suffering from this disease condition bookmark this website or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. We always try to ensure that the content is regularly updated to reflect the latest medical research and treatment options. Thank you for giving your valuable time to read the article.
The article is written by Team RxHarun and reviewed by the Rx Editorial Board Members
Last Updated: September 24, 2025.
