Atrioventricular Defect Blepharophimosis Radial and Anal Defect Syndrome (AVB-RAD)

Atrioventricular defect–blepharophimosis–radial and anal defect syndrome (AVB-RAD) is an extremely rare, inherited condition in which a child is born with a heart defect of the atrioventricular septum, narrow eyelid openings (blepharophimosis), radial-ray limb problems (thumb or radius bone differences), and anal/anorectal malformations (such as imperforate anus or an opening in an abnormal position). Because multiple organ systems are involved, babies need care from a team that includes pediatric cardiology, ophthalmology, orthopedics/hand surgery, and pediatric surgery. The syndrome was first described in siblings and is sometimes listed under the synonym Houlston–Ironton–Temple syndrome. Diagnosis is clinical (based on findings) and management is tailored to the specific defects in each child. Global Genes+3Orpha+3Genetic and Rare Diseases Center+3

Children typically show a complete or partial atrioventricular septal defect (AVSD) causing extra blood flow within the heart, blepharophimosis giving a characteristic eyelid appearance that may reduce vision if not addressed, radial-ray anomalies ranging from a small thumb to a missing radius bone, and anorectal malformations such as imperforate anus or a rectovaginal fistula. Although these features overlap with broader associations like VACTERL (a non-random cluster of vertebral, anal, cardiac, tracheoesophageal, renal, and limb defects), the presence of blepharophimosis plus the specific triad of AVSD + radial + anal defects makes AVB-RAD distinct. National Organization for Rare Disorders+4NCBI+4NCBI+4

The exact genetic cause is not yet established. The original report described affected siblings, suggesting a hereditary basis. In practice, doctors rule out more common single-gene or chromosomal conditions that can combine heart, limb, and anal anomalies (for example, trisomy 21 with AVSD; or syndromes that cause radial-ray defects), and then recognize AVB-RAD when blepharophimosis co-occurs with AVSD and anal anomalies. Genetic counseling is recommended; exome or genome testing may be discussed to look for rare or novel variants, even though a specific gene has not been firmly tied to this syndrome yet. PubMed+1

Non-pharmacological treatments (therapies & others)

(each item: description ≈150 words, purpose, mechanism)

1. Coordinated multidisciplinary care
   Description: A single, coordinated plan brings together pediatric cardiology, ophthalmology, pediatric surgery, orthopedics/hand surgery, anesthesia, neonatology, nursing, and rehabilitation. Early, team-based conferences map out timing (e.g., AVSD repair in infancy; anorectal repair; staged hand procedures; eyelid surgery) and ensure nutrition, growth, and infection prevention are covered. Purpose: reduce delays, prevent complications, and optimize outcomes across organs. Mechanism: coordinated decision-making reduces conflicting priorities (for example, scheduling cardiac surgery before definitive anorectal reconstruction when needed) and improves peri-operative safety (airway, lines, antibiotics, anticoagulation). American College of Cardiology+1

2. Parental education and home monitoring
   Description: Families learn to recognize heart-failure signs (fast breathing, sweating with feeds, poor weight gain), constipation or obstructed stools, wound issues after surgery, and eye concerns (squinting, tearing, vision behaviors). Teach feeding techniques and safe activity after surgery. Purpose: enable early help-seeking and adherence. Mechanism: informed caregivers can adjust feeds, give prescribed stool softeners, keep post-op care, and seek prompt review for respiratory distress or dehydration. NCBI+1

3. Nutrition support and growth monitoring
   Description: Many infants with AVSD burn more calories and tire during feeding; those with ARM may have feeding and stooling challenges. A dietitian plans higher-calorie feeds, paced feeding, and growth tracking. Purpose: avoid failure to thrive and prepare for surgery. Mechanism: adequate calories and micronutrients support wound healing, immune function, and neurodevelopment. NCBI+1

4. Cardiorespiratory physiotherapy (gentle)
   Description: Gentle positioning, airway clearance as indicated, and breathing comfort measures are used in heart-failure-prone infants, guided by cardiology. Purpose: lessen work of breathing and support oxygenation before surgery. Mechanism: improved ventilation/perfusion and reduced secretion pooling, tailored to infant tolerance. NCBI

5. Occupational therapy for feeding and daily care
   Description: OTs teach paced feeding, energy conservation (frequent rests), and adaptive handling to protect sternal or abdominal wounds post-op. Purpose: safer feeding, better weight gain, and smooth transitions home. Mechanism: ergonomic techniques reduce fatigue and protect healing tissues. Mount Sinai Health System

6. Hand therapy and early upper-limb habilitation
   Description: For radial-ray differences, early splinting, stretching, and activity-based play promote range of motion and function; therapy coordinates with planned surgical centralization or thumb reconstruction. Purpose: maximize function and independence. Mechanism: neuroplastic, task-oriented practice develops grasp and bimanual skills around the child’s anatomy. NCBI+1

7. Vision protection and amblyopia prevention
   Description: Ophthalmology monitors vision; temporary taping or ptosis crutches are sometimes used pending eyelid repair. Amblyopia therapy (patching the stronger eye) may be needed. Purpose: protect visual development. Mechanism: ensuring adequate light and image quality to the retina prevents suppression and cortical “lazy eye.” EyeWiki

8. Eyelid hygiene and ocular surface care
   Description: Lubricating drops/ointments, lid hygiene, and UV protection reduce dryness and irritation from abnormal lid position. Purpose: comfort and corneal protection. Mechanism: improved tear film stability and reduced exposure improve corneal health. EyeWiki

9. Peri-operative airway and anesthesia planning
   Description: Babies with cardiac lesions require careful anesthesia (fluid balance, pulmonary vascular resistance control). ARM or eye/hand surgeries add positioning and airway challenges. Purpose: safe anesthesia across staged procedures. Mechanism: pre-op echo review, postoperative ICU planning, and standardized pediatric pathways. NCBI

10. Bowel management program after anorectal repair
    Description: Families learn daily routines (timed toilet sits when age-appropriate), stool softeners as directed, hydration, and fiber when developmentally suitable; dilations as prescribed early after PSARP. Purpose: continence optimization and prevention of constipation/megarectum. Mechanism: regular emptying protects the repair and pelvic floor function. NCBI+1

11. Pelvic floor physical therapy (when older)
    Description: Age-appropriate biofeedback and toileting posture training help children with soiling or constipation after ARM repair. Purpose: improve continence and quality of life. Mechanism: neuromuscular retraining improves coordination of pelvic floor/sphincter muscles. Frontiers

12. Infection prevention
    Description: Standard immunizations, hand hygiene, and wound-care education reduce respiratory and skin infections, which can stress the heart or disrupt post-op healing. Purpose: fewer complications. Mechanism: barrier and vaccine-induced immunity lower pathogen burden and inflammatory stress. NCBI

13. Developmental surveillance and early intervention
    Description: Regular checks of motor, speech, and social milestones; referrals to early-intervention services as needed. Purpose: support neurodevelopment impacted by multiple surgeries or hospitalizations. Mechanism: enriched environments and therapy close developmental gaps. Mount Sinai Health System

14. Scar care and positioning after surgery
    Description: Gentle scar massage once cleared, sun protection, and positioning to avoid tension on sternal/abdominal/perineal scars. Purpose: comfort and better cosmesis. Mechanism: controlled mechanical stress optimizes collagen remodeling. Mount Sinai Health System

15. Psychosocial support for family
    Description: Counseling and peer support help caregivers manage stress of staged surgeries and home care. Purpose: reduce caregiver burnout and improve adherence. Mechanism: coping skills and community resources buffer chronic stress. Mount Sinai Health System

16. Speech-language input (feeding and later speech)
    Description: SLTs assist with oral-motor skills, safe swallowing, and later language if hospital time delays milestones. Purpose: safe nutrition and communication. Mechanism: targeted practice strengthens oropharyngeal coordination. Mount Sinai Health System

17. Safe physical activity
    Description: Age-appropriate, graded play and later exercise are encouraged, with activity restrictions only during immediate post-op periods. Purpose: cardiovascular fitness, bone health, and mood. Mechanism: physiologic training improves stroke volume and skeletal strength over time. Mount Sinai Health System

18. Dental hygiene guidance
    Description: Strong oral care minimizes bacteremia risk in complex heart disease; dentists familiar with congenital heart lesions are preferred. Purpose: reduce infection burden and protect valves. Mechanism: lower oral bacterial load reduces transient bacteremia with daily activities. NCBI

19. School/IEP planning
    Description: Coordinate with schools for recovery periods, bathroom access, and therapy appointments. Purpose: steady education and socialization. Mechanism: accommodations reduce absenteeism and support learning. Mount Sinai Health System

20. Transition planning to adolescent/adult care
    Description: As children age, hand function, continence, and congenital heart disease follow-up move to specialized adolescent/Adult Congenital Heart Disease teams. Purpose: lifelong surveillance and timely re-interventions. Mechanism: structured hand-off and adult-focused protocols prevent care gaps. American College of Cardiology

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Drug treatments

(for common, evidence-based needs in AVSD, ARM, eye/hand care; each ≈150 words; include class, example dose ranges used in pediatrics—final dosing always individualized by clinicians)

Safety note: Doses below are typical pediatric references but MUST be individualized by the child’s clinicians based on age, weight, renal/hepatic function, and surgical plan.

1. Furosemide (loop diuretic)
   Class: Loop diuretic. Dosage/Time: Often 0.5–2 mg/kg/dose PO/IV every 6–12 h in infants with heart failure symptoms; timing adjusted to weight and response. Purpose: relieve pulmonary congestion and reduce preload while awaiting AVSD repair. Mechanism: blocks NKCC2 in the loop of Henle to enhance natriuresis and diuresis, lowering left-to-right shunt volume consequences. Side-effects: dehydration, electrolyte losses (K, Cl), metabolic alkalosis, ototoxicity at high IV doses. NCBI

2. Captopril or Enalapril (ACE inhibitor)
   Class: ACE inhibitor. Dosage/Time: Captopril often starts 0.05–0.1 mg/kg/dose TID; enalapril 0.05–0.1 mg/kg/dose BID, titrated. Purpose: afterload reduction to improve forward output and mitigate AV valve regurgitation pre-op. Mechanism: RAAS blockade reduces angiotensin II–mediated vasoconstriction and aldosterone. Side-effects: hypotension, hyperkalemia, renal function changes, cough (more with older kids). NCBI

3. Losartan (ARB) when ACEI not tolerated
   Class: ARB. Dosage/Time: ~0.7–1.4 mg/kg/day divided; titrate. Purpose: afterload reduction and neurohormonal modulation. Mechanism: blocks AT1 receptor, similar hemodynamic benefits without ACEI cough. Side-effects: hypotension, hyperkalemia, renal effects. NCBI

4. Digoxin
   Class: Cardiac glycoside. Dosage/Time: Loading/maintenance protocols vary; modern use is selective in infants with AVSD and poor growth. Purpose: modest inotropy and rate control in some infants. Mechanism: Na⁺/K⁺-ATPase inhibition increases intracellular Ca²⁺; AV node vagotonic effects. Side-effects: arrhythmias, GI upset; requires level and renal monitoring. NCBI

5. Spironolactone
   Class: Aldosterone antagonist/potassium-sparing diuretic. Dosage/Time: ~1–3 mg/kg/day divided. Purpose: adjunct diuresis and potassium conservation alongside loop diuretics. Mechanism: blocks aldosterone receptors in collecting ducts. Side-effects: hyperkalemia, gynecomastia (rare in infants). NCBI

6. Acetaminophen (paracetamol)
   Class: Analgesic/antipyretic. Dosage/Time: 10–15 mg/kg/dose every 6–8 h (max daily dose per age/weight). Purpose: post-operative pain control after cardiac, perineal (PSARP), eyelid, or hand procedures. Mechanism: central prostaglandin modulation. Side-effects: hepatotoxicity with overdose; dosing vigilance required. Mount Sinai Health System

7. Ibuprofen (age-appropriate)
   Class: NSAID. Dosage/Time: 5–10 mg/kg/dose every 6–8 h (avoid around some cardiac surgeries as directed). Purpose: analgesia and anti-inflammatory effects. Mechanism: COX inhibition. Side-effects: gastric irritation, renal effects; surgeon/cardiologist guidance needed, especially around heart surgery. Mount Sinai Health System

8. Topical ophthalmic lubricants
   Class: Artificial tears/ointments. Dosage/Time: Drops during day; ointment at bedtime. Purpose: protect the cornea in blepharophimosis until or after eyelid surgery. Mechanism: improves tear film and reduces exposure keratopathy. Side-effects: transient blur, rare preservative sensitivity. EyeWiki

9. Topical ocular antibiotics (post-op as indicated)
   Class: e.g., erythromycin ointment. Dosage/Time: short course post-eyelid surgery per surgeon. Purpose: reduce infection risk. Mechanism: local antimicrobial effect. Side-effects: mild irritation. EyeWiki

10. Polyethylene glycol (PEG 3350)
    Class: Osmotic laxative. Dosage/Time: weight-based daily dosing in older infants/children as directed. Purpose: maintain soft stools after ARM repair. Mechanism: retains water in stool; improves transit. Side-effects: bloating; adjust dose to effect. NCBI

11. Lactulose
    Class: Osmotic laxative. Dosage/Time: individualized dosing to achieve daily soft stools. Purpose: constipation prevention in bowel-management programs. Mechanism: non-absorbed sugar draws fluid into colon; fermentation increases peristalsis. Side-effects: gas, cramps. NCBI

12. Antibiotic prophylaxis (peri-operative)
    Class: Per surgical protocol (e.g., cefazolin if appropriate). Dosage/Time: single-dose or short peri-op course. Purpose: reduce surgical site infections for cardiac, ARM, or eyelid/hand operations. Mechanism: bactericidal coverage tailored to procedure/site. Side-effects: allergy, GI upset. Medscape

13. Oral rehydration solution (ORS) during GI illness
    Class: Balanced electrolyte solution. Dosage/Time: small frequent sips per weight-based plans. Purpose: prevent dehydration in children with recent surgeries or on diuretics. Mechanism: sodium-glucose cotransport enhances absorption. Side-effects: rare; monitor for ongoing losses. NCBI

14. Proton-pump inhibitor (when indicated)
    Class: PPI (e.g., omeprazole). Dosage/Time: pediatric dosing per GI guidance. Purpose: protect gastric mucosa if NSAIDs necessary; manage reflux affecting feeding/weight gain. Mechanism: blocks H⁺/K⁺-ATPase in parietal cells. Side-effects: diarrhea, micronutrient issues with long use; evaluate need regularly. Mount Sinai Health System

15. Antimicrobials for intercurrent infections
    Class: As per local guidelines (e.g., amoxicillin for simple otitis; tailored for skin infections around wounds). Dosage/Time: weight-based courses. Purpose: promptly treat infections that can worsen heart or wound status. Mechanism: pathogen-specific killing. Side-effects: allergy, diarrhea; stewardship is essential. Mount Sinai Health System

16. Vitamin D (medication-grade supplement if deficient)
    Class: Vitamin/hormone. Dosage/Time: deficiency-repletion per pediatric standards. Purpose: bone health in children with limb differences and reduced outdoor exposure during hospitalizations. Mechanism: improves calcium absorption and bone mineralization. Side-effects: hypercalcemia with overdose. Mount Sinai Health System

17. Iron (if iron-deficiency anemia is present)
    Class: Mineral supplement/medication. Dosage/Time: elemental iron ~3 mg/kg/day divided; confirm diagnosis first. Purpose: correct anemia that can aggravate tachycardia and fatigue. Mechanism: provides substrate for hemoglobin synthesis. Side-effects: dark stools, constipation. Mount Sinai Health System

18. Topical barrier creams
    Class: Zinc oxide/petrolatum. Dosage/Time: with each diaper change. Purpose: protect perineal skin during bowel program and post-op period. Mechanism: moisture barrier reduces dermatitis. Side-effects: rare irritation. NCBI

19. Analgesic regional blocks/locoregional anesthesia (procedural)
    Class: Local anesthetics (e.g., bupivacaine via caudal block for ARM surgery). Dosage/Time: one-time intra-op. Purpose: improved post-op pain control, less systemic opioid need. Mechanism: sodium-channel blockade of nociceptive transmission. Side-effects: local anesthetic toxicity if misdosed—specialist administered. Medscape

20. Antiemetics post-op (e.g., ondansetron)
    Class: 5-HT3 antagonist. Dosage/Time: weight-based IV/PO peri-op. Purpose: reduce vomiting that can stress incisions and hydration. Mechanism: blocks serotonin receptors in chemoreceptor trigger zone. Side-effects: constipation, QT prolongation (rare). Mount Sinai Health System

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Dietary molecular supplements

1. Fiber (psyllium/inulin) when age-appropriate
   Dose: start low, titrate to daily soft stool per bowel program. Function/Mechanism: increases stool bulk or softness to prevent constipation after ARM repair. NCBI

2. Probiotics (select strains)
   Dose: product-specific CFU per pediatric GI guidance. Function/Mechanism: modulate gut microbiota; may aid stool regularity and reduce antibiotic-associated diarrhea. Frontiers

3. Vitamin D
   Dose: deficiency repletion/maintenance per pediatric standards. Function/Mechanism: bone mineralization; supports growth during prolonged recovery periods. Mount Sinai Health System

4. Iron (confirmed deficiency only)
   Dose: ~3 mg/kg/day elemental iron in divided doses. Function/Mechanism: restores hemoglobin and oxygen delivery. Mount Sinai Health System

5. Omega-3 fatty acids (older children)
   Dose: product-specific pediatric dosing. Function/Mechanism: anti-inflammatory effects; may support cardiovascular health; evidence modest in pediatrics—use only with clinician input. Mount Sinai Health System

6. Oral rehydration salts (during GI illness)
   Dose: WHO/UNICEF ORS volumes by weight and loss. Function/Mechanism: glucose-sodium cotransport restores fluids/electrolytes. NCBI

7. Calcium (if dietary intake low and with vitamin D)
   Dose: age-based recommended intake; supplement only if dietary gap. Function/Mechanism: bone and tooth mineralization. Mount Sinai Health System

8. Multivitamin (short-term if intake poor)
   Dose: once daily pediatric formula. Function/Mechanism: covers micronutrient gaps during recovery; not a substitute for food. Mount Sinai Health System

9. Zinc (deficiency or poor wound healing)
   Dose: clinician-directed; avoid excess. Function/Mechanism: enzymatic cofactor in tissue repair and immunity. Mount Sinai Health System

10. Vitamin A (deficiency only)
    Dose: per pediatric deficiency protocols; avoid routine high dosing. Function/Mechanism: epithelial integrity, ocular surface health. Mount Sinai Health System

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Immunity-booster / regenerative / stem-cell–oriented drugs

There are no disease-specific “immunity boosters” or stem-cell drugs proven for AVB-RAD. Safe, evidence-based practice focuses on immunizations, nutrition, and infection prevention. Below are supportive pharmacologic categories used only when medically indicated:

1. Routine childhood vaccines — standard schedules protect against respiratory and GI infections that can destabilize heart or wound healing. Mechanism: active immunity. Mount Sinai Health System

2. Palivizumab (selected infants during RSV season) — monoclonal antibody for high-risk infants with significant heart disease; specialist-guided. Mechanism: passive immunity against RSV F protein. Mount Sinai Health System

3. Antibiotics for proven infections — treat promptly to reduce systemic stress. Mechanism: pathogen eradication. Mount Sinai Health System

4. Iron/vitamin D repletion when deficient — supports hematologic and bone health. Mechanism: corrects specific deficits. Mount Sinai Health System

5. Probiotics (selected cases) — microbiome modulation in bowel programs. Mechanism: colonization resistance, fermentation benefits. Frontiers

6. Local growth-factor-friendly wound care — not systemic drugs; good nutrition and gentle care promote physiologic healing. Mechanism: supports normal tissue repair cascades. Mount Sinai Health System

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Surgeries

1. Atrioventricular septal defect (AVSD) repair
   Procedure: Open-heart surgery in infancy (often 3–6 months for complete AVSD; later for partial forms) using cardiopulmonary bypass; patches close atrial/ventricular septal components and surgeons reconstruct/repair the atrioventricular valves. Why: prevent pulmonary vascular disease, relieve heart failure, and allow normal growth. American College of Cardiology+1

2. Posterior sagittal anorectoplasty (PSARP) / anoplasty
   Procedure: Definitive reconstruction to place the rectum within the sphincter complex; may be single-stage for “low” lesions or staged with a temporary colostomy for “high” lesions. Why: to establish an anatomically correct anus and enable controlled bowel movements. Journal of Medical Insight+1

3. Colostomy (temporary, when needed)
   Procedure: Creation of a stoma to divert stool before definitive ARM repair, especially in high malformations or when cardiac status necessitates delay. Why: protect the perineum, prevent obstruction, and allow safe timing of reconstruction. Medscape

4. Radial-ray reconstruction (centralization, thumb reconstruction/pollicization)
   Procedure: Orthopedic/hand surgeries reposition the hand over the ulna (centralization) and reconstruct thumb function (e.g., index-to-thumb pollicization). Why: improve grasp, bimanual function, and independence. NCBI+1

5. Eyelid surgery for blepharophimosis/ptosis
   Procedure: Staged eyelid/medial canthal procedures and ptosis repair (e.g., frontalis suspension) to open the visual axis and improve appearance. Why: prevent amblyopia and allow normal visual development. EyeWiki

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Preventions

1. Keep all cardiology and surgical follow-ups to detect valve regurgitation or obstructions early after AVSD repair. American College of Cardiology

2. Immunizations on schedule to reduce infection-related setbacks. Mount Sinai Health System

3. Hand hygiene and wound care after each surgery. Medscape

4. Daily bowel program (softeners, fluids, fiber when appropriate) to prevent constipation after ARM repair. NCBI

5. Vision checks to catch amblyopia early. EyeWiki

6. Dental hygiene to lower oral bacterial load in children with heart disease. NCBI

7. Growth monitoring and nutrition plans to avoid failure to thrive. NCBI

8. Activity pacing during recovery to protect incisions and the sternum. Mount Sinai Health System

9. Caregiver training on medication dosing and signs of distress. Mount Sinai Health System

10. Transition planning to adult congenital care in adolescence. American College of Cardiology

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When to see doctors (red flags)

Seek urgent care for fast or labored breathing, poor feeding, bluish skin, fainting, fever with lethargy, vomiting that prevents hydration, no stool with abdominal swelling, severe wound redness or discharge, sudden eye redness/pain, or a fall with arm deformity. These signs can indicate heart failure decompensation, infection, obstruction, wound problems, ocular emergencies, or fractures, which need prompt evaluation in children with recent cardiac/abdominal/ocular/hand surgeries or residual lesions. NCBI+1

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What to eat & what to avoid

1. Breast milk or appropriate formula in infancy; high-calorie plans if advised to support growth pre-op. Avoid diluting feeds without guidance. NCBI

2. Adequate fluids daily for soft stools; avoid sugary drinks that worsen diarrhea. NCBI

3. Fiber-rich foods when age-appropriate (fruit/veg, oats) to prevent constipation; avoid sudden high-fiber loads right after ARM repair—introduce slowly. NCBI

4. Iron-rich foods (meat, legumes) if iron deficiency suspected; avoid giving iron without medical advice/testing. Mount Sinai Health System

5. Vitamin-D sources (safe sunlight, fortified foods) and calcium to support bones during recovery. Mount Sinai Health System

6. Small, frequent feeds for infants with heart symptoms; avoid tiring, prolonged feeds. NCBI

7. Post-op heart/abdominal cautions: follow surgeon’s progression; avoid heavy, gassy foods early if they cause discomfort. Mount Sinai Health System

8. Oral rehydration solution during GI illness; avoid plain water only for significant dehydration. NCBI

9. Balanced family diet emphasizing whole foods; avoid high-salt processed foods that can worsen fluid retention in heart failure periods. NCBI

10. Allergy-safe feeding per pediatric guidance; avoid unsupervised supplements or “immune boosters.” Mount Sinai Health System

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Frequently asked questions

1. Is AVB-RAD the same as VACTERL?
   No. Some features overlap (anal, cardiac, limb), but blepharophimosis with AVSD and radial/anal defects define AVB-RAD as a distinct, very rare syndrome. Orpha+1

2. What causes it?
   The exact gene is unknown; the first report involved siblings, suggesting a genetic basis. Genetic counseling/testing helps rule out other causes and inform families. PubMed

3. How is the heart defect treated?
   Most children need surgical AVSD repair in infancy; timing and specifics depend on the type and the child’s condition. American College of Cardiology+1

4. Will my child need medicines before heart surgery?
   Yes, some infants need diuretics and afterload reducers to control symptoms and support growth until surgery. NCBI

5. How are anal defects treated?
   With PSARP/anoplasty, sometimes staged with a temporary colostomy for high lesions; long-term bowel programs help continence. Journal of Medical Insight+1

6. Can the hand be improved?
   Yes. Therapy starts early, and surgery (centralization, pollicization) can improve grasp and function. NCBI+1

7. Will eyelid surgery be needed?
   Often yes, to open the visual axis and prevent amblyopia; timing is individualized. EyeWiki

8. Is vision threatened?
   Risk exists due to small openings and ptosis; early eye care prevents amblyopia and protects the cornea. EyeWiki

9. Will my child grow normally?
   Growth can be challenged by heart work and surgeries, but with nutrition support and timely repairs, many children catch up. NCBI

10. Are there special vaccines?
    Routine vaccines are critical; some infants with significant heart disease may qualify for RSV antibody during season. Mount Sinai Health System

11. Is there a single “cure” pill or stem-cell therapy?
    No. Care is surgical and supportive; no proven stem-cell drugs exist for this syndrome. American College of Cardiology

12. What complications are watched for after AVSD repair?
    Left AV valve insufficiency and LV outflow tract obstruction are key postoperative issues; follow-up is lifelong. American College of Cardiology

13. Can constipation return after ARM repair?
    Yes; bowel programs, hydration, and fiber (when age-appropriate) help keep stools soft and protect results. NCBI

14. Is this condition always part of a known syndrome like BPES?
    Blepharophimosis appears in several conditions (e.g., BPES), but AVB-RAD is defined by the combined heart/anal/limb pattern with blepharophimosis. EyeWiki+1

15. Where can I read a concise definition?
    See Orphanet, NIH GARD, and the original 1994 case report describing the sibling pair that established this entity. Orpha+2Genetic and Rare Diseases Center+2

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 26, 2025.

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