ASXL3-Related Disorder

ASXL3-Related Disorder is a rare genetic condition that affects brain and body development. Most children have delayed milestones, learning disability (often moderate to severe), very limited or absent speech, low muscle tone as infants, feeding problems, and later behavioral differences such as autistic traits. Some children have seizures, sleep problems, vision issues like squinting (strabismus), and skeletal features such as scoliosis or joint contractures. The diagnosis is confirmed by finding a disease-causing change (variant) in one copy of the ASXL3 gene using genetic testing. There is no single “cure,” but early therapies, good nutrition, standard treatments for seizures or reflux, and educational support can help function and quality of life. NCBI+2rarediseases.org+2

The ASXL3 gene helps control how other genes turn on and off during growth. ASXL3 works in an epigenetic “helper team” called the PR-DUB complex that removes a small tag (called H2AK119ub1) from histone proteins so genes can be read correctly. When ASXL3 is broken, this tagging system is unbalanced, and many growth and brain-development genes are mis-regulated. Studies of patient cells show increased H2AK119ub1 when ASXL3 is faulty, supporting this mechanism. PMC+2PMC+2

ASXL3-related disorder is a rare genetic condition that affects brain and body development. It is caused by a change (variant) in the ASXL3 gene. Most children have moderate to severe developmental delay, very limited or absent speech, feeding problems in infancy, low muscle tone (hypotonia), and learning difficulties as they grow. Many children also show autistic features, sleep problems, and distinctive—but not always obvious—facial features. Doctors diagnose the disorder by finding a disease-causing ASXL3 variant using genetic tests like exome or genome sequencing. The condition follows autosomal dominant inheritance, but in most families the variant is new (de novo) in the child. NCBI+1

Scientists understand the disorder as a loss-of-function problem: the ASXL3 gene does not make enough working protein. This haploinsufficiency disrupts normal gene regulation during development and leads to the typical features. The strongest evidence supports loss-of-function (truncating) variants; extra copies of ASXL3 do not have a proven disease effect. ClinGen+1

Another Names

• Bainbridge-Ropers syndrome (BRPS)

• ASXL3-related neurodevelopmental disorder

• ASXL3 deficiency syndrome (also described as “severe feeding difficulties–failure to thrive–microcephaly due to ASXL3 deficiency”) Orpha+1

Types

There are no official medical subtypes yet. However, doctors sometimes describe practical groupings to explain the range of severity:

1. Classic ASXL3-related disorder — the “typical” picture with severe speech impairment, feeding problems, and global developmental delay. NCBI

2. Attenuated or mosaic presentations — features are milder when only some cells carry the variant (mosaicism) or when the variant’s effect is partial. Rare parental germline mosaicism can also explain recurrence in families. PubMed+1

3. Deletion-associated cases — some individuals have a deletion of part or all of the ASXL3 gene detected by chromosomal microarray; the overall mechanism is still loss-of-function. ClinGen

Because different ASXL3 variants can cause a spectrum of findings, “types” mainly help with care planning and genetic counseling rather than changing the core diagnosis. White Rose Research Online

Causes

“Causes” here means genetic variant categories and biological contributors that lead to the same final problem—too little functional ASXL3.

1. De novo truncating variants (new stop-gain or frameshift changes) that remove essential parts of the protein. These are the most common cause. NCBI

2. Nonsense variants that introduce a premature stop signal. The cell often destroys this shortened message (nonsense-mediated decay). PMC

3. Frameshift variants (small insertions/deletions) that shift the reading frame and stop the protein early. NCBI

4. Splice-site variants that disrupt how RNA is cut and joined, often causing a truncated protein or RNA decay. PMC

5. Whole-gene deletions (copy-number loss) removing ASXL3 entirely. ClinGen

6. Exon-level deletions/duplications affecting critical regions of the gene and leading to loss-of-function. ClinGen

7. Missense variants with loss-of-function effect (less common) that disable the protein’s ability to regulate other genes. White Rose Research Online

8. Chromosomal rearrangements disrupting the ASXL3 locus on 18q12 (e.g., unbalanced translocations) that reduce gene function. Orpha

9. Parental germline mosaicism, where a parent carries the variant in some egg/sperm cells, increasing recurrence risk even when their blood test is negative. PubMed

10. Somatic mosaicism in the child, giving a milder or patchy presentation if not all cells carry the variant. Frontiers

11. RNA degradation (nonsense-mediated decay) triggered by many truncating variants, lowering ASXL3 protein levels. PMC

12. Pathogenic variants near functional domains (e.g., plant homeodomain/PHD-like regions) that impair chromatin regulation. Nature

13. Early truncations that more strongly disrupt the protein’s scaffolding roles, often linked with more severe features. (This reflects reported cohort patterns, although exact genotype–phenotype rules remain limited.) White Rose Research Online

14. Regulatory variants (rare) that reduce ASXL3 expression without changing the protein sequence. (Inferred mechanism for some copy-number or intronic events.) ClinGen

15. Compound structural changes (e.g., deletion plus nearby rearrangement) reducing dosage. Orpha

16. Epigenetic dysregulation downstream of ASXL3 loss, which disturbs normal gene programs in development. Wiley Online Library

17. Gene dosage sensitivity (haploinsufficiency)—one working copy is not enough. This is the core cause. ClinGen

18. No evidence for triplosensitivity—having an extra working copy is not currently linked to disease; the issue is lack of function, not excess. ClinGen

19. Post-zygotic mutational events during early embryonic cell divisions that create mosaic loss-of-function. Frontiers

20. Very rare inherited variants from an affected or mosaic parent; most cases remain de novo. PubMed

Common Symptoms and Signs

1. Global developmental delay and intellectual disability: Children learn skills later than expected—sitting, standing, talking, problem-solving—with severity from moderate to severe. NCBI

2. Severely limited or absent speech: Many children do not develop spoken language or have only a few words; they may communicate with gestures or devices. NCBI

3. Feeding difficulties and poor weight gain: Weak suck, reflux, or vomiting in infancy can cause failure to thrive; some children need feeding therapy or tube feeding. Orpha

4. Hypotonia (low muscle tone): The body feels “floppy,” making motor milestones—rolling, sitting, walking—arrive late and balance unsteady. NCBI

5. Autistic features or autism spectrum disorder: Differences in social interaction, communication, and repetitive behaviors are common. SFARI Gene

6. Characteristic facial features: Subtle patterns (e.g., high arched eyebrows, full lips, open mouth, anteverted nares) may be noticed by genetics clinicians but vary widely and are not required. Nature

7. Microcephaly (small head size), often developing after birth (postnatal). Orpha

8. Sleep problems: Difficulty falling or staying asleep and irregular sleep–wake patterns are frequently reported. White Rose Research Online

9. Feeding/swallowing discoordination: Oral-motor challenges can make chewing and safe swallowing hard; aspiration risk is assessed when needed. NCBI

10. Seizures in a subset: Not all children have epilepsy, but EEG and neurology review are used if spells suggest seizures. White Rose Research Online

11. Behavioral challenges: Irritability, anxiety, sensory sensitivities, or self-stimulatory movements may appear and change with age. National Organization for Rare Disorders

12. Gastrointestinal issues: Reflux, constipation, and feeding intolerance are common and need routine management. NCBI

13. Orthopedic problems: Scoliosis, joint hypermobility or, less often, contractures may develop and need physical therapy or bracing. White Rose Research Online

14. Dental/oral issues: Open-mouth posture, drooling, or delayed dentition may occur; dental care with behavior support is helpful. White Rose Research Online

15. Growth differences: Many children are small for age due to feeding and metabolic factors; careful nutrition can improve growth over time. Orpha

Diagnostic Tests

A) Physical Examination

1. Comprehensive pediatric and dysmorphology exam: A genetics clinician looks for the combination of developmental delay, feeding issues, hypotonia, and facial features that suggest ASXL3-related disorder. This exam guides which genetic tests to order next. NCBI

2. Growth measurements: Weight, length/height, and head size are plotted over time to detect failure to thrive or microcephaly, which are common in this condition. Orpha

3. Neurologic examination: Tone, reflexes, coordination, and movement patterns are checked to document hypotonia, motor delay, or signs that would prompt EEG or brain MRI. NCBI

4. Musculoskeletal screening: The spine, hips, and joints are examined for scoliosis, hip stability, and hypermobility, which influence therapy and orthopedic referrals. White Rose Research Online

B) Manual/Bedside Functional Tests

5. Developmental assessments (e.g., Bayley Scales, Vineland): Standardized tools measure cognitive, language, and motor skills to plan early intervention and track progress. NCBI

6. Feeding/swallowing bedside assessment: A speech-language pathologist evaluates oral-motor skills, aspiration risk, and strategies to make feeding safer and more efficient. NCBI

7. Behavioral/ASD screening (e.g., M-CHAT/Foll-up, ADOS by specialists): These tools identify autistic features and guide therapy such as ABA or social communication supports. SFARI Gene

8. Beighton score for joint laxity: A simple bedside scoring of hypermobility that helps explain motor fatigue or pain and informs physical therapy planning. White Rose Research Online

C) Laboratory and Pathological/Genetic Tests

9. Chromosomal microarray (CMA): Detects deletions or duplications of the ASXL3 region; a deletion confirms loss-of-function as the mechanism. ClinGen

10. Single-gene sequencing of ASXL3: Reads the gene letter-by-letter to find nonsense, frameshift, or splice variants known to cause disease. Often ordered as part of a larger panel. NCBI

11. Multigene neurodevelopmental panel: Tests many genes at once when the clinical picture is broad; increases the chance of finding an explanatory variant. NCBI

12. Clinical exome sequencing: Surveys all protein-coding genes and is one of the most common ways ASXL3 variants are discovered in practice. NCBI

13. Clinical genome sequencing: Captures coding and non-coding changes and structural variants; helpful when exome and CMA are negative but suspicion remains. White Rose Research Online

14. Parental testing (trio analysis): Determines if the ASXL3 variant is de novo or inherited; also can detect parental mosaicism that changes recurrence risk. PubMed+1

15. RNA studies / splicing assays (selected cases): Show whether a splice-site variant disrupts normal RNA processing, supporting pathogenicity. PMC

16. Targeted copy-number testing of ASXL3 exons: If sequencing finds only a single suspicious change or coverage is uneven, targeted CNV assays can reveal a hidden exon deletion. ClinGen

D) Electrodiagnostic Tests

17. Electroencephalogram (EEG): Used when seizures are suspected or events are unclear; helps decide on anti-seizure treatment. Not all children need EEG, only if clinically indicated. White Rose Research Online

18. Overnight polysomnography (sleep study): Considered for persistent sleep problems or suspected sleep-disordered breathing to plan behavioral, medical, or airway treatments. White Rose Research Online

E) Imaging Tests

19. Brain MRI: Looks for structural differences (for example, a thin corpus callosum or delayed myelination in some reports). Results vary and mainly help guide therapy and exclude other causes. NCBI

20. Spine radiographs: Monitor for scoliosis when the physical exam suggests curvature; early detection supports bracing and therapy. White Rose Research Online

Non-pharmacological treatments (therapies & others)

Note: Each item includes a short description, purpose, and simple mechanism. Evidence is adapted from ASXL3 care summaries and general pediatric neurodevelopment literature; where ASXL3-specific studies are limited, standard-of-care principles apply.

1. Early developmental intervention
   What it is: Coordinated services in infancy (physiotherapy, occupational, speech) to build skills during the brain’s most flexible period.
   Purpose: Improve motor control, communication, feeding, and self-help.
   Mechanism: Frequent, goal-directed practice strengthens neural pathways (neuroplasticity) and prevents secondary complications like contractures. NCBI

2. Speech and language therapy with AAC
   What it is: Speech therapy plus tools like picture boards or tablet-based communication devices.
   Purpose: Give a reliable way to communicate even when speech is absent.
   Mechanism: Trains receptive and expressive language using visual supports; AAC does not block speech—rather, it often boosts it. NCBI

3. Feeding and swallowing therapy
   What it is: Assess and train oral-motor skills; adjust texture; teach safe swallow strategies.
   Purpose: Reduce choking, reflux, poor weight gain, and distress at meals.
   Mechanism: Targeted oral-sensory and motor exercises improve suck–swallow–breathe coordination; texture changes lower aspiration risk. NCBI

4. Gastrostomy (feeding tube) education & nutrition planning
   What it is: For persistent feeding failure, a G-tube plus dietitian support.
   Purpose: Secure calories, growth, and medication delivery; reduce stress at meals.
   Mechanism: Bypasses unsafe or inefficient oral feeding while therapies continue. NCBI

5. Physiotherapy for tone, posture, and mobility
   What it is: Stretching, strengthening, positioning, and gait training.
   Purpose: Prevent contractures, manage hypotonia/spasticity, improve function.
   Mechanism: Repeated task-specific practice remodels muscles and motor programs; splinting/standing frames support alignment. NCBI

6. Occupational therapy for daily living and sensory needs
   What it is: Training for dressing, feeding, hand skills; sensory regulation strategies.
   Purpose: Increase independence and reduce behavioral dysregulation.
   Mechanism: Activity analysis + graded tasks improve fine motor control and adaptive skills; sensory diets help arousal modulation. NCBI

7. Behavioral therapy (including autism-informed supports)
   What it is: Structured, positive-reinforcement approaches; parent training.
   Purpose: Improve communication, reduce self-injury, and manage repetitive or disruptive behaviors.
   Mechanism: Environmental shaping and reinforcement strengthen desired behaviors and replace maladaptive ones. NCBI

8. Sleep hygiene program
   What it is: Consistent routines, light control, calming pre-bed rituals; screen sleep apnea.
   Purpose: Improve sleep duration and daytime behavior.
   Mechanism: Stabilizes circadian cues and reduces arousal; medical workup treats apnea when present. NCBI

9. Vision care and (when needed) strabismus management
   What it is: Regular ophthalmology visits, glasses, patching, or surgery for significant strabismus.
   Purpose: Protect vision and depth perception; support learning.
   Mechanism: Corrects refractive error and misalignment to optimize visual input. NCBI

10. Dental care with desensitization
    What it is: Six-monthly dental checks after age three, fluoride, and behavior-supportive visits.
    Purpose: Prevent caries and manage enamel or crowding issues that are common.
    Mechanism: Regular preventive care and behavior techniques reduce fear and disease burden. NCBI

11. Orthotics and seating
    What it is: Ankle-foot orthoses, wrist splints, adaptive seating, standers.
    Purpose: Support alignment, reduce falls, and prevent contractures.
    Mechanism: External support improves biomechanics and decreases abnormal tone-driven postures. NCBI

12. Educational supports / IEP
    What it is: Special education plans with AAC, therapies, and 1:1 support when needed.
    Purpose: Maximize learning; many children need specialized settings.
    Mechanism: Structured, individualized teaching with visual aids and assistive technology. NCBI

13. Parent and caregiver training
    What it is: Coaching on communication, behavior strategies, feeding, and mobility care.
    Purpose: Carry therapy into daily life; reduce caregiver stress.
    Mechanism: Skills generalize when practiced in natural settings and routines. NCBI

14. Assistive technology for learning and access
    What it is: Switches, eye-gaze systems, adapted keyboards, and learning apps.
    Purpose: Enable participation despite motor or speech limits.
    Mechanism: Bypasses impaired pathways and leverages preserved abilities. NCBI

15. Nutrition therapy (high-calorie, texture-modified diets)
    What it is: Calorie-dense foods, thickeners, texture tailoring, reflux-friendly meals.
    Purpose: Secure growth and reduce reflux/vomiting.
    Mechanism: Caloric density and texture adjustments match oral-motor skills and GI tolerance. NCBI

16. Physical activity & safe play
    What it is: Daily movement matched to ability (assisted walking, aquatic therapy).
    Purpose: Improve stamina, mood, and constipation.
    Mechanism: Aerobic and strengthening work support neuromuscular health and GI motility. NCBI

17. Constipation program (non-drug measures first)
    What it is: Fluids, fiber as tolerated, toileting routines, activity.
    Purpose: Reduce pain and feeding refusal linked to constipation.
    Mechanism: Bowel habit training and diet improve transit; medicines are added if needed (see below). NCBI

18. Communication-rich environment
    What it is: Everyday modeling of signs/pictures/AAC with patient wait-time.
    Purpose: Build understanding and joint attention.
    Mechanism: High-frequency exposure and consistent modeling grow receptive language. NCBI

19. Social and community supports
    What it is: Connection with rare-disease groups and respite services.
    Purpose: Reduce isolation; share practical solutions.
    Mechanism: Peer learning and caregiver relief improve adherence and wellbeing. ARRE Foundation

20. Regular surveillance plan
    What it is: Scheduled reviews for growth, nutrition, behavior, seizures, mobility, sleep, dentistry, and eyes.
    Purpose: Catch problems early and adjust therapies.
    Mechanism: Proactive monitoring prevents avoidable complications. NCBI

Drug treatments

There is no disease-specific medicine for ASXL3. Drugs are used to treat problems like seizures, spasticity, reflux, sleep disturbance, or severe behavior. I list common options with class, typical use-times, purpose, and mechanism. Exact doses depend on age, weight, and comorbidities—your prescriber must set them.

1. Levetiracetam (anti-seizure; morning/evening)
   Purpose: Control generalized tonic-clonic or absence seizures.
   Mechanism: Modulates synaptic vesicle protein SV2A to reduce neuronal hyperexcitability. Side effects: Irritability, somnolence; rarely mood changes. NCBI

2. Valproate (anti-seizure; divided doses)
   Purpose: Broad-spectrum seizure control when first-line fails or is not tolerated.
   Mechanism: Increases GABA and blocks sodium/calcium channels. Side effects: Weight gain, tremor, liver/pancreas toxicity; teratogenic—special caution in females of childbearing potential. NCBI

3. Clobazam (benzodiazepine adjunct; evening or BID)
   Purpose: Add-on for refractory seizures.
   Mechanism: Enhances GABA-A receptor activity. Side effects: Sedation, drooling, tolerance. NCBI

4. Baclofen (oral antispastic; 3–4 times/day)
   Purpose: Reduce spasticity and painful muscle stiffness/contractures.
   Mechanism: GABA-B agonist reducing excitatory neurotransmission in the spinal cord. Side effects: Drowsiness, hypotonia, constipation; taper to avoid withdrawal. NCBI

5. Botulinum toxin type A (local injections every 3–6 months)
   Purpose: Focal spasticity or drooling impacting care.
   Mechanism: Blocks acetylcholine release at neuromuscular junction or salivary glands. Side effects: Local weakness; rare systemic effects. NCBI

6. Melatonin (nightly)
   Purpose: Shorten sleep latency and improve sleep regularity.
   Mechanism: Re-aligns circadian signaling via MT1/MT2 receptors. Side effects: Morning grogginess, vivid dreams; generally well tolerated in neurodevelopmental disorders. NCBI

7. Proton-pump inhibitor (e.g., omeprazole; daily)
   Purpose: Treat reflux that worsens feeding, pain, or aspiration risk.
   Mechanism: Irreversible H+/K+-ATPase inhibition lowers gastric acid. Side effects: Diarrhea, possible nutrient malabsorption with long-term use; reassess regularly. NCBI

8. H2 blocker (e.g., famotidine; 1–2 times/day)
   Purpose: Alternative/adjunct for reflux symptoms.
   Mechanism: Blocks histamine H2 receptors on parietal cells to reduce acid. Side effects: Headache; tachyphylaxis possible. NCBI

9. Polyethylene glycol (osmotic laxative; daily as directed)
   Purpose: Chronic constipation that interferes with feeding and comfort.
   Mechanism: Holds water in stool to improve softness and transit. Side effects: Bloating; adjust dose to achieve soft daily stools. NCBI

10. Cyproheptadine (appetite stimulant; bedtime or BID/TID)
    Purpose: Assist weight gain when behaviorally safe and nutrition remains low.
    Mechanism: Antihistamine/antiserotonin effect increases appetite and may reduce cyclic vomiting. Side effects: Sedation; paradoxical irritability. Social Security Administration

11. Risperidone (for severe irritability/self-injury in ASD; daily/BID)
    Purpose: Reduce dangerous behaviors that block learning and care.
    Mechanism: Dopamine/serotonin receptor blockade. Side effects: Weight gain, metabolic effects; needs monitoring. NCBI

12. Guanfacine or clonidine (ADHD-like hyperactivity/impulsivity; daily/BID)
    Purpose: Improve attention and reduce hyperarousal.
    Mechanism: Central α2-agonists lowering sympathetic tone. Side effects: Sleepiness, low blood pressure; taper if stopping. NCBI

13. Saliva control (glycopyrrolate or transdermal scopolamine)
    Purpose: Manage drooling that causes skin breakdown or aspiration risk.
    Mechanism: Anticholinergic reduction of salivary flow. Side effects: Dry mouth, constipation, urinary retention. NCBI

14. Iron therapy (only if iron deficiency is proven)
    Purpose: Correct anemia that worsens fatigue and development.
    Mechanism: Replaces iron for hemoglobin and myelin enzymes. Side effects: GI upset, constipation; lab-guided dosing. NCBI

15. Vitamin D (if deficient)
    Purpose: Bone health and immune support, especially with limited mobility or feeding.
    Mechanism: Restores 25-OH vitamin D to normal for calcium balance. Side effects: Rare hypercalcemia if over-dosed; monitor levels. NCBI

16. Topical fluoride/varnish per dental plan
    Purpose: Prevent caries in children with feeding challenges.
    Mechanism: Strengthens enamel and reduces demineralization. Side effects: Minimal when used professionally. NCBI

17. Intranasal steroids for rhinitis (as indicated)
    Purpose: Improve nasal obstruction that worsens sleep and feeding.
    Mechanism: Local anti-inflammatory effect. Side effects: Nose irritation; rare epistaxis. NCBI

18. Analgesics for musculoskeletal pain (as needed)
    Purpose: Enable participation in therapy when contractures or scoliosis cause pain.
    Mechanism: COX inhibition (NSAIDs) or central analgesia (acetaminophen). Side effects: GI upset with NSAIDs; dose carefully. NCBI

19. Antireflux prokinetics (reserved cases)
    Purpose: Selected children with severe gastroparesis features.
    Mechanism: Increases GI motility. Side effects: Drug-specific; use specialist guidance. NCBI

20. Sleep apnea treatments (e.g., CPAP, ENT interventions as directed)
    Purpose: Treat documented obstructive sleep apnea on study.
    Mechanism: Splints airway or corrects structural causes. Side effects: Device tolerance issues; monitored by specialists. NCBI

Dietary molecular supplements

Evidence specific to ASXL3 is limited; supplements should target documented deficiencies or general needs in children with feeding issues.

1. High-calorie medical formulas
   Dose: As set by dietitian (kcal/kg/day targets).
   Function: Close calorie gap, support growth.
   Mechanism: Nutrient-dense intake without large volumes. NCBI

2. Multivitamin/minerals
   Dose: Age-appropriate daily.
   Function: Cover gaps from restricted textures/selectivity.
   Mechanism: Replaces common shortfalls (iron, zinc, B-vitamins). NCBI

3. Vitamin D
   Dose: Lab-guided repletion then maintenance.
   Function: Bone/mineral balance; fracture prevention.
   Mechanism: Normalizes calcium/phosphate handling. NCBI

4. Omega-3 fatty acids
   Dose: Typical pediatric EPA/DHA amounts per clinician.
   Function: General neurodevelopmental and anti-inflammatory support (mixed evidence).
   Mechanism: Membrane and eicosanoid effects. NCBI

5. Probiotics (selected strains)
   Dose: Per product; trial under clinician advice.
   Function: May help constipation or antibiotic-associated diarrhea.
   Mechanism: Microbiome modulation and short-chain fatty acid production. NCBI

6. Fiber supplements (as tolerated)
   Dose: Gradual titration with fluids.
   Function: Improve stool form and frequency.
   Mechanism: Adds bulk/fermentation for motility. NCBI

7. Iron (only if deficient)
   Dose: mg/kg elemental iron per labs.
   Function: Corrects anemia and supports development.
   Mechanism: Restores hemoglobin and iron-dependent enzymes. NCBI

8. Calcium (if dietary intake is low)
   Dose: Age-based; consider lactose-free options if needed.
   Function: Bone mineralization.
   Mechanism: Meets daily calcium needs during growth. NCBI

9. Zinc (if low or with poor growth)
   Dose: Short course with monitoring.
   Function: Appetite and immune support in deficiency.
   Mechanism: Cofactor in growth and taste pathways. NCBI

10. Thickeners for liquids
    Dose: Texture level per swallow study.
    Function: Reduce aspiration and improve hydration.
    Mechanism: Slows flow to match swallow timing. NCBI

Important safety note about “immunity-booster / regenerative / stem-cell drugs”

There are no proven immune-booster or regenerative drugs for ASXL3-Related Disorder, and stem-cell therapies for this condition are experimental and not recommended outside approved clinical trials. Advertising of “stem-cell cures” for neurodevelopmental disorders is common but is not supported by controlled evidence and may pose serious risks. Safer, evidence-based care focuses on nutrition, therapies, and standard treatments of the child’s specific problems. NCBI

Surgeries

1. Gastrostomy (G-tube) placement
   Procedure: A small tube is placed into the stomach through the abdominal wall.
   Why: When oral feeding stays unsafe or too slow to maintain growth, a G-tube secures nutrition and reduces stress around meals. NCBI

2. Antireflux surgery (fundoplication; selected cases)
   Procedure: The upper stomach is wrapped around the lower esophagus to strengthen the valve.
   Why: For severe reflux with aspiration or failure on medicines and feeding strategies. NCBI

3. Strabismus surgery
   Procedure: Eye muscles are adjusted to improve alignment.
   Why: Persistent eye misalignment that affects vision or causes symptoms. NCBI

4. Orthopedic soft-tissue procedures for contractures
   Procedure: Tendon lengthening or releases when splints/therapy are insufficient.
   Why: To improve hygiene, comfort, and brace fit; sometimes to aid standing. NCBI

5. Scoliosis surgery (rare, severe curves)
   Procedure: Spinal instrumentation and fusion.
   Why: For progressive curves causing pain, sitting difficulty, or pulmonary compromise after bracing fails. NCBI

Preventions

1. Treat reflux and constipation early to prevent feeding failure and pain. NCBI

2. Keep vaccinations up to date to avoid preventable infections. NCBI

3. Follow dental cleanings every 6 months to prevent caries. NCBI

4. Use safe feeding textures and thickened fluids if advised to prevent aspiration. NCBI

5. Maintain sleep routines and screen for sleep apnea. NCBI

6. Use orthotics and therapy to prevent contractures. NCBI

7. Eye checks yearly to prevent amblyopia from strabismus. NCBI

8. Growth and nutrition checks at each visit to prevent failure to thrive. NCBI

9. Safety proofing at home to reduce injury in children with seizures or poor balance. NCBI

10. Build an individualized education plan early to prevent missed learning windows. NCBI

When to see a doctor urgently

1. Any first seizure, repeated seizures, or change in seizure pattern.
2. Blue spells, choking, or suspected aspiration with feeds.
3. Poor weight gain, dehydration, or persistent vomiting.
4. New or worsening stiff posture, painful contractures, or rapid scoliosis.
5. Red eyes, eye crossing that is getting worse, or vision concerns.
6. Severe sleep problems, loud snoring with pauses, or daytime choking episodes.
7. Self-injury or aggression that threatens safety. NCBI

What to eat and what to avoid

1. Choose calorie-dense, protein-rich foods and formulas if growth is low. NCBI

2. Use texture-modified foods and thickened fluids as your feeding therapist recommends. NCBI

3. Offer small, frequent meals if reflux or early satiety is a problem. NCBI

4. Encourage water and fiber (as tolerated) for constipation; add stool medicines if prescribed. NCBI

5. If dairy worsens reflux or constipation, discuss trial adjustments with your dietitian. NCBI

6. Avoid choking hazards (nuts, hard raw vegetables) if chewing is weak. NCBI

7. Limit acidic/spicy foods if reflux is active. NCBI

8. Keep added sugars modest to protect teeth, especially if oral hygiene is hard. NCBI

9. Consider high-calorie add-ins (oil, nut butters, powders) if safe in your child’s texture plan. NCBI

10. Work with a dietitian for individualized plans and micronutrient monitoring. NCBI

FAQ

1. Is ASXL3-Related Disorder inherited?
   Most variants are new in the child (de novo), but rarely it can be inherited. Genetic counseling is recommended for families. NCBI

2. What is the outlook?
   Abilities vary. Many need lifelong support, but early therapy, good nutrition, and targeted treatments improve skills and comfort. NCBI

3. Does every child have seizures?
   No. About one-third do; standard anti-seizure medicines usually help. NCBI

4. Will my child ever talk?
   Some remain minimally verbal; many understand more than they can say. AAC can greatly improve communication. NCBI

5. Are there typical facial features?
   There can be patterns (arched brows, wide-spaced eyes, long nose, full lower lip), but they are not specific and may be subtle. NCBI

6. Are brain scans abnormal?
   Often normal; there is no single “signature” MRI finding. NCBI

7. Is there a special diet for ASXL3?
   No single diet. Plans are individualized to feeding skills, reflux, and growth, often with a dietitian. NCBI

8. What school supports help?
   An IEP with AAC, therapy time, and visual supports is common; some children attend specialized programs. NCBI

9. Are there clinical trials?
   Trials change over time; your genetics team can search registries and discuss eligibility. (Mechanistic research continues in PR-DUB biology.) PMC

10. Is this the same as Bohring-Opitz or Shashi-Pena syndromes?
    No. Those involve the related genes ASXL1 and ASXL2 and have different patterns. NCBI

11. Can adults live independently?
    Many adults need assisted living; some have partial independence with supports. NCBI

12. Can behavior improve?
    Yes. Structured supports and communication access often reduce distress and self-injury. NCBI

13. What about growth?
    Feeding issues often explain poor early growth; with treatment, growth can stabilize. NCBI

14. Is cancer risk increased?
    ASXL3 somatic variants are seen in some tumors, but having a germline ASXL3-Related Disorder does not mean a known inherited tumor syndrome. NCBI

15. Where can families connect?
    Patient organizations and registries (e.g., ASXL-focused groups) share resources and community support. ARRE Foundation

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.

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Hyperhomocysteinemic Syndrome

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Homocystinuria due to Cystathionine Beta-synthase (CBS) Deficiency