Houlston-Ironton-Temple (HIT) syndrome is an extremely rare pattern of birth differences. Babies are born with a serious heart wall problem called an atrioventricular septal defect (AVSD), narrow eyelid openings (blepharophimosis), and a combination of arm/hand (“radial ray”) and anal/rectal malformations. In plain words, the middle wall between the right and left sides of the heart is partly or completely missing, the eyes look narrowed because the eyelid openings are small, parts of the thumb/forearm can be under-developed or absent, and the anus may be misplaced, narrowed, or closed (imperforate). Because the heart is affected, newborns can develop breathing trouble and poor feeding early in life. Because the anus and bowel outlet can be malformed, babies may not pass stool normally and can have abdominal swelling. Limb differences vary from a small thumb to a missing thumb, a short or curved forearm bone (ulna), or missing radial bone. HIT syndrome has been described in only a handful of cases worldwide, so most of what we know comes from case summaries and rare-disease compendia, not from large research studies. Global Genes+2CheckOrphan+2
Houlston-Ironton-Temple syndrome is a very rare set of birth differences that tend to appear together in the same child. The main pattern is: a hole and valve problem in the heart called an atrioventricular septal defect (AVSD), tight and small eye openings called blepharophimosis, and anal and radial-hand defects (such as imperforate or displaced anus, rectovaginal fistula, missing thumb, or short/abnormal forearm bones). The syndrome was first reported in 1994 in siblings by Houlston, Ironton, and Temple, which is why the condition carries their names. Since then, it has also been listed in rare-disease knowledge bases and reference works. Because only a few cases are known, doctors manage it by treating each organ problem according to best-practice guidelines. MalaCards+4PubMed+4Genetic and Rare Diseases Center+4
How doctors think about it. AVSD means the wall between the top and bottom heart chambers and the two atrioventricular valves did not form normally before birth, which can cause extra blood flow to the lungs and heart failure in infancy; blepharophimosis can threaten vision by causing amblyopia (lazy eye) if severe; anorectal malformations and rectovaginal fistula can block or misroute stool; and radial-ray defects can limit hand function (especially if the thumb is absent). Management usually needs a coordinated team in a children’s hospital—pediatric cardiology and cardiac surgery, pediatric colorectal surgery, pediatric ophthalmology/oculoplastics, and pediatric hand/orthopedic surgery. PubMed Central+6NCBI+6NCBI+6
HIT syndrome is also listed under the descriptive name “atrioventricular defect-blepharophimosis-radial and anal defect syndrome.” It should not be confused with Temple syndrome (TS14), an imprinting disorder on chromosome 14 with a different cause and clinical picture. Global Genes+2Genomics Education Programme+2
Other names
Houlston-Ironton-Temple syndrome
Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
These names point to the same ultra-rare condition. Global Genes
Types
There is no official subtype system because so few patients have been reported. Clinicians often group cases by the pattern and severity of findings:
Cardiac subtype (AVSD-dominant): A complete or partial AVSD is the major problem, with mild limb or anal features. Early heart surgery is usually needed. SpringerLink
Limb/anal subtype (radial/anal-dominant): Limb and anorectal malformations are prominent (e.g., absent thumb, imperforate or anterior anus), while the heart defect is smaller or surgically correctable. Global Genes
Mixed/complex subtype: Significant defects in all involved systems (heart, eyelids, limb/forearm, and anus). Babies need coordinated care from cardiology, surgery, and genetics. Global Genes
This “type” framing is practical, not official; it helps plan care but does not change the name of the syndrome. Global Genes
Syndrome
Because HIT syndrome is ultra-rare, a single gene or mutation has not been confirmed for the whole syndrome. Most published sources treat it as a pattern of multiple congenital anomalies of uncertain cause. Below are 20 evidence-based mechanisms and risk factors that can lead to parts of the HIT picture (heart-hand-anal-eyelid), with examples and citations. Think of them as biologic pathways that plausibly overlap in HIT—even though data specifically tying each item to “HIT” itself are limited.
De novo (new) genetic variants affecting early heart-limb development
Embryo-stage gene changes can disrupt both radial ray (thumb/forearm) formation and cardiac septation (heart walls). The classic model is Holt–Oram syndrome (TBX5), which shows how one gene can link heart and upper-limb defects. NCBI+1TBX5 pathway disruption (Holt–Oram biology)
TBX5 controls upper-limb patterning and atrial/atrioventricular septation; perturbations create “heart–hand” defects resembling parts of HIT. NCBI+1SALL1 pathway disruption (Townes–Brocks biology)
SALL1 variants cause anal malformations, ear anomalies, and thumb differences. This shows a plausible route to the anal + limb elements seen in HIT. NCBI+1Global chromosomal copy-number changes
Large microdeletions/duplications can disturb multiple organ systems at once (heart, limbs, anus). Geneticists look for these with chromosomal microarray. PubMed CentralPolygenic/oligogenic effects
In some babies, several small-effect variants together may cross a threshold for multi-system anomalies. This is a general concept in congenital malformation genetics. PubMed CentralImprinting/epigenetic dysregulation (general mechanism)
While Temple syndrome (TS14) itself is a different disorder, it illustrates how epigenetic errors can cause growth and development problems. This mechanism is relevant as a concept when work-ups are negative. Genomics Education Programme+1Maternal pregestational diabetes
High glucose in early pregnancy increases the risk of congenital heart defects (including septal lesions); rigorous glucose control lowers risk. PubMed+1Retinoic acid (vitamin A derivative) embryopathy
Excess retinoids in early pregnancy can cause craniofacial and cardiac malformations; RA signaling is crucial in cardiogenesis. PubMed+2ScienceDirect+2Thalidomide exposure
A historical but well-proven cause of upper-limb reduction defects; molecular work shows interaction with cereblon (CRBN) and angiogenesis pathways. PubMed Central+2PubMed Central+2Other teratogens (alcohol, certain anticonvulsants, etc.)
Some drugs/chemicals raise risks for heart and limb defects; careful medication review is part of evaluation. PubMedMaternal obesity
Higher BMI before or during pregnancy is linked with increased CHD risk in population studies. JAMA NetworkAdvanced maternal age (aneuploidy risk)
Increasing age raises the chance of chromosomal errors that can produce multisystem malformations. (General congenital anomaly genetics principle.) PubMed CentralConsanguinity (recessive risk)
Parents who are related have a higher chance of both carrying the same rare variant, increasing risk of recessive syndromes with heart/limb/anal features. (General genetics principle applied in rare-disease clinics.) PubMed CentralDisruption of Notch signaling (concept)
Notch pathway genes are central to heart valve/septum and vascular development (e.g., JAG1 in Alagille). Disturbance could plausibly contribute in an HIT-like pattern. PubMed CentralSHH (Sonic hedgehog) pathway disturbance (concept)
SHH gradients pattern limbs and midline structures; major disruption can produce combined limb + craniofacial/visceral anomalies. PubMed CentralVACTERL-spectrum biology (association concept)
The VACTERL association includes vertebral, anal, cardiac, tracheoesophageal, renal, limb anomalies. HIT overlaps anal/cardiac/limb elements. PubMed CentralEarly vascular disruption events
Transient loss of blood supply to developing limb/organ buds is a recognized mechanism for reduction defects. PubMed CentralUndiagnosed single-gene disorder with variable expressivity
Some families show dominant or recessive inheritance of heart-limb-anal patterns with wide variability; exome/genome sequencing may identify a gene in the future. PubMed CentralIntrauterine growth restriction and placental factors (modifier, not primary cause)
Placental insufficiency can worsen the expression and outcomes of structural defects. (Seen across many CHDs.) Orpha“Unknown/idiopathic”
Even after modern testing, many babies with multiple congenital anomalies have no identified cause, underscoring the need for careful counseling and follow-up research enrollment when available. PubMed Central
Common symptoms and signs
Fast breathing and trouble feeding in newborns due to the heart defect. Global Genes
Blue lips or skin (cyanosis) or low oxygen with large shunts. Global Genes
Poor weight gain and tiring during feeds. Global Genes
Heart murmur heard by a clinician. SpringerLink
Small eyelid openings (blepharophimosis) giving the eyes a narrowed look. Global Genes
Thumb differences (small, triphalangeal, or absent). Global Genes
Forearm differences (short or curved ulna; absent or hypoplastic radius). Global Genes
Curved fifth finger (clinodactyly) or small hands. CheckOrphan
Anal opening problems (imperforate, anteriorly placed, or stenotic anus) causing failure to pass stool. Global Genes
Rectovaginal fistula (in girls), leading to stool passage through the vagina. Global Genes
Eye differences (small eyes), sometimes with pale retina reported. CheckOrphan
Ear differences (small or cupped ears). CheckOrphan
Small lower jaw (micrognathia) and broad nose noted in some summaries. CheckOrphan
General growth restriction before or after birth (seen in several rare-disease summaries). CheckOrphan
Associated heart defects beyond AVSD (e.g., Tetralogy of Fallot in some listings). Features can vary from child to child. CheckOrphan
Diagnosis tests
A. Physical examination
Newborn exam with cardiac and respiratory check
Doctors assess breathing effort, color, heart rate, and listen for murmurs; failure to thrive or fast breathing suggests significant shunting from AVSD. SpringerLinkDysmorphology exam of face and eyes
Measurement of palpebral fissures confirms blepharophimosis; clinicians also document ear shape, jaw size, and other facial features. Global GenesLimb/hand evaluation
Detailed inspection and function testing of thumbs, wrists, and forearms (looking for absent/hypoplastic radius/first metacarpal, clinodactyly). Global GenesPerineal/anal exam
Checks anal patency, position (anteriorly placed vs normal), and signs of fistula. Immediate surgical referral is made if imperforate anus is present. Global Genes
B. “Manual” bedside assessments
Feeding and oxygen-saturation observation
Nurses and doctors monitor feeding endurance and continuous pulse oximetry to gauge heart-related desaturation. SpringerLinkFour-limb blood pressure and pulses
Assesses circulatory status and screens for associated vascular anomalies. SpringerLinkAnorectal catheter/gentle dilator pass (in specialized hands)
Used only when safe to confirm patency and guide urgent management in suspected imperforate anus. Global GenesDevelopmental tone and reflex check
Screens for hypotonia or neurologic red flags that can co-travel with complex congenital syndromes. Orpha
C. Laboratory & pathological/genetic testing
Chromosomal microarray (CMA)
First-tier test to detect microdeletions/duplications across the genome when multiple anomalies are present. PubMed CentralKaryotype
Finds large chromosomal rearrangements or aneuploidies; still useful in syndromic heart disease. PubMed CentralExome or genome sequencing
If CMA is negative, sequencing can detect single-gene causes (e.g., TBX5/SALL1 if the phenotype strongly suggests those pathways), even though no single gene explains all HIT cases yet. NCBI+1Targeted gene panels
Heart-limb or anorectal malformation panels may be used when clinical clues point that way. NCBI+1Methylation/imprinting testing (to exclude look-alikes)
Used if features and growth pattern raise concern for an imprinting disorder like Temple syndrome (TS14)—a different condition involving chromosome 14. PubMed CentralRoutine labs for surgical readiness
CBC, electrolytes, and coagulation tests are standard before heart or anorectal surgery. (General pediatric cardiac/surgical practice.) SpringerLink
D. Electro-diagnostic studies
Electrocardiogram (ECG)
Screens rhythm and conduction; AV canal defects and associated syndromes can include conduction abnormalities. SpringerLinkHolter/event monitoring (if indicated)
Looks for intermittent arrhythmias before/after surgery or if symptoms suggest rhythm issues. SpringerLinkPulse oximetry trend monitoring
Continuous O₂ saturation helps quantify shunt impact and guides oxygen/diuretic therapy. SpringerLink
E. Imaging studies
Transthoracic echocardiography (core test)
Defines the AVSD anatomy and helps plan surgery. Fetal echocardiography can detect AV canal defects during pregnancy. SpringerLinkCardiac MRI or CT angiography (selected cases)
Provides detailed views when echo is limited, especially in complex intracardiac anatomy. SpringerLinkTargeted radiology for limb/anal anomalies
Forearm/hand X-rays to define radial/ulnar bones and first metacarpal; pelvic and perineal ultrasound to map anorectal fistulas; renal ultrasound to check for associated kidney anomalies common in anorectal malformation complexes.
Non-pharmacological treatments (therapies and others)
Below are the most useful non-drug supports for children with this syndrome. Each item includes a plain-language description (~150 words), purpose, and mechanism/rationale.
Multidisciplinary care coordination.
What it is: Regular care conferences that include cardiology, colorectal surgery, ophthalmology/oculoplastics, hand/orthopedics, anesthesia, nursing, physiotherapy, occupational therapy, speech/feeding therapy, social work, and genetics. Purpose: To build a single, staged plan (what to fix first, what to monitor) and avoid conflicting treatments. Mechanism: Complex congenital conditions are safer when specialists share information and time surgeries to reduce risk; for example, AVSD repair is usually prioritized before pulmonary vascular disease develops, while anorectal repair is planned to allow safe feeding, growth, and continence training. Evidence base: AVSD nearly always requires surgical repair with careful timing; best outcomes come from guideline-based pathways and long-term follow-up. American College of Cardiology+1Early cardiac nutrition support.
What it is: Calorie-dense feeds, lactation support, and dietitian input for infants with AVSD who tire easily. Purpose: Maintain growth until heart surgery. Mechanism: Congestive heart failure raises energy needs while reducing feeding stamina; structured feeding plans limit failure to thrive before repair. Evidence base: Medical AVSD care includes nutritional support alongside diuretics and afterload reduction when needed. American College of CardiologyHeart-failure nursing and monitoring.
What it is: Daily weights, breathing rate checks, and watching for sweating or poor feeding. Purpose: Catch decompensation early and adjust therapy. Mechanism: Monitoring preload/afterload responses helps tailor medicines and timing of surgery. Evidence base: Standard AVSD care emphasizes symptom-guided adjustment before definitive repair. NCBIPre-op AVSD optimization and surgery timing counseling.
What it is: Education for parents on why surgery is usually planned in early infancy. Purpose: Reduce lung injury from prolonged high flow/pressure. Mechanism: Earlier repair lowers the risk of pulmonary vascular disease. Evidence base: Preferred timing is generally before ~6 months for complete AVSD, customized to anatomy and physiology. NCBIVision preservation planning (blepharophimosis).
What it is: Serial eye exams, refraction, and amblyopia prevention. Purpose: Protect sight in the setting of ptosis/blepharophimosis. Mechanism: Early detection of refractive error and occlusion therapy prevents permanent vision loss. Evidence base: Early surgery and lifelong monitoring are often needed to prevent amblyopia in blepharophimosis. NCBIStaged eyelid surgery education.
What it is: Teaching families that eyelid reconstruction is often done in two stages (medial/lateral canthoplasty in early childhood, then ptosis correction). Purpose: Balance visual function and cosmetic outcomes. Mechanism: Correcting telecanthus and epicanthus first sets the framework before levator surgery. Evidence base: Oculoplastic references outline typical staging at ages ~3–5 for canthoplasty, followed by ptosis correction a year later when safe for vision. EyeWikiFeeding therapy for anorectal malformations (ARMs).
What it is: Occupational/speech therapy to establish safe feeding patterns pre- and post-colostomy/PSARP. Purpose: Promote growth and reduce stooling complications. Mechanism: Coordinated feeding reduces abdominal distension and aspiration risk around surgeries. Evidence base: ARM care pathways pair surgical repair (PSARP) with nutrition and functional training. Boston Children’s Hospital+1Bowel management program after ARM repair.
What it is: Individualized stool softeners, enemas, or dilations to achieve predictable continence. Purpose: Improve quality of life and prevent soiling. Mechanism: After PSARP, structured bowel regimens and dilations maintain the neo-anus and optimize continence. Evidence base: PSARP principles include calibration/dilation and long-term bowel management. Pediatric Surgery LibraryStoma care training (when colostomy is used).
What it is: Teaching caregivers how to handle ostomy bags, skin care, and troubleshooting. Purpose: Prevent infections and maintain growth until pull-through. Mechanism: Good stoma care lowers complications and hospital readmissions. Evidence base: Colostomy is common as a first stage for high ARMs or rectovaginal fistula. PubMed CentralHand function assessment and therapy (radial-ray defects).
What it is: Early occupational therapy to strengthen pinch and grasp, and to prepare for surgery such as pollicization. Purpose: Maximize independence in dressing, feeding, and play. Mechanism: Neuro-motor training helps the brain adapt to altered hand anatomy and later surgical changes. Evidence base: Pollicization/reconstruction decisions are based on function; therapy supports outcomes. Cleveland ClinicPre-op hand surgery planning (pollicization education).
What it is: Explaining when the index finger may be moved to become a thumb in severe hypoplasia/aplasia. Purpose: Set expectations about function and appearance. Mechanism: An opposable thumb restores key pinch and daily living skills. Evidence base: Pollicization is the gold standard for severe thumb deficiency in childhood. PubMed CentralStrabismus evaluation and management.
What it is: Orthoptic assessments and, if needed, timed strabismus surgery. Purpose: Protect binocular vision and depth perception. Mechanism: Correcting eye alignment reduces amblyopia risk from blepharophimosis-related visual imbalance. Evidence base: Blepharophimosis care stresses amblyopia prevention alongside eyelid surgery. NCBICardiac rehabilitation principles for children.
What it is: Age-appropriate activity plans after AVSD repair. Purpose: Safe return to play and improved endurance. Mechanism: Gradual aerobic conditioning after surgery supports cardiac recovery. Evidence base: AVSD follow-up algorithms emphasize structured long-term care after repair. American College of CardiologyDevelopmental surveillance and early intervention.
What it is: Regular screening for motor, speech, and social delays with referrals to early-intervention services. Purpose: Catch and treat delays early, especially in children who had long hospital stays or vision challenges. Mechanism: Early neurodevelopmental therapy improves long-term outcomes across congenital conditions. Evidence base: Multisystem congenital disorders benefit from coordinated developmental services; this is standard in AVSD and ARM pathways. American College of Cardiology+1Pain control pathways around surgeries.
What it is: Child-specific pain protocols using acetaminophen/ibuprofen (if appropriate), regional blocks, and non-drug comfort methods. Purpose: Reduce stress, speed recovery, and improve feeding/mobility. Mechanism: Multimodal analgesia limits opioid needs. Evidence base: Pediatric surgical programs use standardized pain pathways for PSARP and cardiac/hand procedures. MedscapeWound and scar care education.
What it is: Instructions on incision care, sun protection, and scar massage. Purpose: Reduce infection and improve cosmetic/functional results (eyelids, perineum, hand). Mechanism: Good local care lowers adhesions and contractures. Evidence base: Post-op guidance is integral to PSARP and oculoplastic outcomes. Pediatric Surgery Library+1Genetic counseling for the family.
What it is: Discussion about what is known (and unknown) regarding inheritance, plus options for future pregnancies. Purpose: Support informed decisions. Mechanism: Although no specific gene is confirmed, the sibling report suggests a genetic basis; counselors explain recurrence risks and testing options. Evidence base: Original sibling report and rare-disease listings support suspected genetic etiology. PubMed+1Infective endocarditis prevention education.
What it is: Teaching dental care and explaining when antibiotic prophylaxis is recommended after heart repair. Purpose: Reduce infection risk in children with repaired congenital heart disease. Mechanism: Good oral hygiene and guideline-based prophylaxis lower bacteremia risk. Evidence base: Follow-up pathways for repaired/unrepaired AVSD include standard congenital heart disease preventive counseling. American College of CardiologyPsychosocial and caregiver support.
What it is: Social work, parent groups, mental-health resources. Purpose: Reduce caregiver burnout and improve adherence to complex care plans. Mechanism: Family support is linked to better surgical and developmental outcomes in chronic pediatric conditions. Evidence base: Multidisciplinary programs embed psychosocial care in AVSD/ARM pathways. American College of Cardiology+1Transition planning to adult congenital care.
What it is: Preparing teens for adult congenital heart clinics and continued ophthalmic/colorectal/hand follow-up. Purpose: Maintain long-term health and function. Mechanism: AVSD repairs need lifelong surveillance for valve issues or rhythm problems; other reconstructions can also need later adjustments. Evidence base: AVSD guidance stresses lifelong follow-up. American College of Cardiology
Drug treatments
Because this syndrome is structural, medicines treat symptoms and complications (especially heart failure from AVSD) rather than the syndrome itself. Doses must be individualized by pediatric specialists.
Furosemide (loop diuretic).
Class: Diuretic. Typical pediatric use: mg/kg dosing by cardiology. When used: Infancy before AVSD repair when there are heart-failure signs. Purpose: Reduce lung congestion and work of breathing. Mechanism: Promotes salt/water loss to lower preload. Side effects: Low potassium, dehydration. Evidence: Diuretics are a mainstay in significant left-to-right shunts before surgery. teachmepaediatrics.comSpironolactone (potassium-sparing diuretic).
Class: Aldosterone antagonist. Use: Often added to furosemide. Purpose: Limit potassium loss and improve diuresis. Mechanism: Blocks aldosterone in the distal nephron. Side effects: High potassium, breast tenderness. Evidence: Pediatric AVSD care often pairs loop and potassium-sparing diuretics. teachmepaediatrics.comChlorothiazide/Hydrochlorothiazide (thiazide diuretics).
Class: Diuretic. Use: As adjunct when a second diuretic is needed. Purpose/Mechanism: Synergistic natriuresis with loop diuretics. Side effects: Low sodium/potassium. Evidence: Used for difficult-to-control fluid overload in congenital heart failure. MedscapeCaptopril/Enalapril (ACE inhibitors).
Class: Afterload reducers. Use: Symptomatic AVSD awaiting repair. Purpose: Reduce afterload and regurgitant flow. Mechanism: Blocks angiotensin-II formation. Side effects: Low blood pressure, high potassium, cough. Evidence: Recommended as part of medical management for AVSD where appropriate. NCBILosartan (ARB).
Class: Afterload reducer. Use: Alternative if ACEI not tolerated. Purpose/Mechanism: Blocks angiotensin-II receptor to reduce afterload. Side effects: Dizziness, high potassium. Evidence: AVSD reviews include ACEI/ARB for symptom control. NCBIDigoxin.
Class: Cardiac glycoside. Use: Selected infants with poor systolic function. Purpose: Improve contractility and symptoms. Mechanism: Inhibits Na/K-ATPase to increase intracellular calcium. Side effects: Arrhythmias, nausea. Evidence: Use is debated; can be considered in selected pediatric heart-failure settings. MedscapeSildenafil (for pulmonary hypertension, case-by-case).
Class: PDE-5 inhibitor. Use: If pulmonary vascular resistance is elevated. Purpose: Reduce pulmonary pressures. Mechanism: Enhances nitric oxide signaling in pulmonary vessels. Side effects: Flushing, hypotension. Evidence: Used in pediatric pulmonary hypertension surrounding congenital heart disease (specialist decision). AHA JournalsAntibiotics for surgical prophylaxis (peri-op).
Class: Perioperative prophylaxis. Use: Around PSARP, AVSD repair, and hand/oculoplastic procedures. Purpose: Lower surgical site infection risk. Mechanism: Time-limited bactericidal coverage. Side effects: Drug-specific. Evidence: Standard pediatric surgical protocols. MedscapeAcetaminophen.
Class: Analgesic/antipyretic. Use: Post-op pain and fever control. Purpose: Comfort and better feeding/mobility. Mechanism: Central COX inhibition. Side effects: Liver toxicity at high doses. Evidence: First-line in pediatric enhanced-recovery pathways. MedscapeIbuprofen (if age-appropriate and surgeon agrees).
Class: NSAID. Purpose/Mechanism: Peripheral COX inhibition for pain/inflammation after limb/eyelid surgeries. Side effects: Gastritis, renal effects. Evidence: Common in multimodal pediatric analgesia (avoid if contraindicated). MedscapeTopical ocular lubricants.
Class: Tear substitutes. Use: To protect the cornea when eyelids are tight or after eyelid surgery. Purpose: Prevent dryness and abrasions. Mechanism: Surface protection. Side effects: Minimal irritation. Evidence: Standard adjunct in oculoplastic care. NCBITopical antibiotic ointment (post-eyelid surgery).
Class: Antibiotic. Purpose: Reduce wound infection risk. Mechanism: Local bacterial suppression. Side effects: Local irritation. Evidence: Routine oculoplastic post-op care. EyeWikiStool softeners (e.g., polyethylene glycol) post-PSARP.
Class: Osmotic laxative. Purpose: Keep stools soft to protect the repair and reduce pain. Mechanism: Holds water in stool. Side effects: Bloating. Evidence: Standard after ARM repair as part of bowel programs. Pediatric Surgery LibraryRectal irrigations/enema solutions (protocolized).
Class: Mechanical bowel regimen. Purpose: Achieve predictable emptying and continence. Mechanism: Evacuates stool on schedule. Side effects: Electrolyte shifts if misused. Evidence: Core of postoperative bowel management. Children’s Hospital ColoradoAntibiotics for urinary/skin infections (as needed).
Class: Therapeutic antibiotics. Purpose: Treat intercurrent infections that can complicate recovery. Mechanism: Pathogen-specific therapy. Side effects: Drug-specific. Evidence: Standard pediatric surgical aftercare. MedscapeIron supplementation (if iron-deficiency anemia occurs).
Class: Micronutrient. Purpose: Correct anemia that can worsen fatigue and cardiac symptoms. Mechanism: Replenishes iron for red cell production. Side effects: Constipation. Evidence: General pediatric and cardiac care principle in infants with chronic illness. PubMed CentralProton-pump inhibitor (short course if severe reflux).
Class: Acid suppression. Purpose: Protect feeding tolerance and reduce aspiration risk in fragile infants. Mechanism: Lowers gastric acid. Side effects: Diarrhea. Evidence: Symptom-driven use in infants with congenital heart disease awaiting surgery. PubMed CentralVitamin D supplementation (per pediatric guidelines).
Class: Nutritional supplement. Purpose: Support bone health during limited activity and post-op recovery. Mechanism: Aids calcium balance. Side effects: Rare at guideline doses. Evidence: General pediatric standards. PubMed CentralTopical barrier creams (perineal care).
Class: Skin protectants. Purpose: Prevent dermatitis around stoma or after PSARP. Mechanism: Moisture barrier. Side effects: Minimal. Evidence: Common ARM nursing protocols. MedscapeProbiotics (case-by-case after surgery if advised).
Class: Microbiome adjunct. Purpose: Help stooling regularity and reduce antibiotic-related diarrhea. Mechanism: Modulates gut flora. Side effects: Rare sepsis risk in very immunocompromised hosts; use only if surgeon agrees. Evidence: Supportive pediatric surgical care varies by center. Medscape
Dietary molecular supplements
These are supportive and should be used only with your child’s clinical team.
High-calorie infant formulas or fortified breast milk.
Dose: Dietitian-directed kcal/oz increases. Function/Mechanism: Meets higher energy needs in heart failure; reduces growth faltering pre-surgery. American College of CardiologyMedium-chain triglyceride (MCT) oil (dietitian guided).
Dose: Small measured additions to feeds. Function: Easier fat absorption; boosts calories without large volume. American College of CardiologyIron (as above when deficient).
Dose: Pediatric dosing by weight. Function: Supports hemoglobin and energy. PubMed CentralVitamin D (as above).
Dose: Per pediatric guidelines. Function: Bone mineralization during recovery. PubMed CentralOmega-3 fatty acids (older infants/children).
Dose: Age-appropriate; dietitian advice. Function: Anti-inflammatory support and general cardiovascular health. American College of CardiologyZinc (if deficient).
Dose: Lab-guided. Function: Wound healing post-surgery. MedscapeFiber supplements (after ARM repair if recommended).
Dose: Gradual titration. Function: Stool form control in bowel programs. Children’s Hospital ColoradoElectrolyte solutions during illness.
Dose: As advised. Function: Prevent dehydration that can worsen heart symptoms. NCBIProtein modulars (dietitian-directed).
Dose: Add to feeds. Function: Support growth and wound healing. MedscapeProbiotic blend (as above, surgeon-approved).
Dose: Product-specific. Function: Support gut regularity during bowel programs/after antibiotics. Medscape
Immunity booster / regenerative / stem-cell drugs
There are no approved immune-booster or stem-cell drugs that treat this syndrome itself. For safety, families should avoid unproven stem-cell therapies marketed online. Below are supportive items sometimes called “immune boosting,” but they are simply standard pediatric supports:
Routine childhood vaccines.
Dose: Per national schedule. Function/Mechanism: Protects against infections that could complicate heart or surgical recovery. American College of CardiologySeasonal influenza and COVID-19 vaccines (age-eligible).
Dose: Per guidelines. Function: Reduce respiratory infections that strain the heart/lungs. American College of CardiologyPalivizumab (RSV prophylaxis) in eligible infants.
Dose: Monthly during RSV season if criteria met. Function: Lowers severe RSV risk in high-risk infants with congenital heart disease. American College of CardiologyIron + Vitamin D when deficient.
Function: Support normal immune and musculoskeletal health during recovery. Mechanism: Corrects deficiency states. PubMed CentralNutritional optimization (dietitian plan).
Function: Adequate calories, protein, and micronutrients support wound healing and immunity. American College of CardiologyAntibiotic prophylaxis (peri-op only, not chronic).
Function: Prevents surgical infections; not an “immune booster.” Mechanism: Direct antimicrobial effect. Medscape
Surgeries
AVSD surgical repair.
Procedure: Patch closure of septal defects and reconstruction of the atrioventricular valves. Why: To stop excess lung blood flow, relieve heart failure, and protect the lungs from permanent high pressure. Usually planned in early infancy based on anatomy and symptoms. American College of Cardiology+1Posterior sagittal anorectoplasty (PSARP).
Procedure: Re-create the anus within the sphincter muscles and correctly position the rectum; often after a temporary colostomy if needed. Why: To establish a functional outlet for stool and improve continence potential. Boston Children’s Hospital+1Repair of rectovaginal/rectovestibular fistula.
Procedure: Separate the rectum from the vagina/vestibule and create proper channels; techniques vary by anatomy (perineal repair, anterior perineal anorectoplasty, limited PSARP, or pull-through). Why: Prevent infections, protect continence, and restore normal anatomy. PubMed+1Oculoplastic eyelid reconstruction for blepharophimosis.
Procedure: Medial/lateral canthoplasty and staged ptosis repair. Why: Prevent amblyopia, improve visual field, and address cosmesis. NCBI+1Hand reconstruction/pollicization for radial-ray defects.
Procedure: Reconstruction of thumb or transfer of index finger to create a functional thumb; tendon balancing and bone procedures as needed. Why: Restore opposition and fine pinch for daily living skills. PubMed Central+1
Preventions
Because the syndrome is congenital, we focus on preventing complications:
Keep cardiology follow-ups and echo checks on schedule. American College of Cardiology
Maintain high-calorie nutrition until and after heart surgery. American College of Cardiology
Use amblyopia prevention and attend eye-clinic visits on time. NCBI
Follow bowel program instructions after PSARP (dilations, stool plan). Pediatric Surgery Library
Practice stoma and perineal skin care to avoid infections. Medscape
Keep immunizations up to date; ask about RSV prophylaxis if eligible. American College of Cardiology
Maintain dental hygiene to reduce endocarditis risk after heart repair. American College of Cardiology
Use post-op pain plans to allow deep breathing/mobility/feeding. Medscape
Attend hand therapy and home exercises after reconstruction. PubMed Central
Keep a written care plan that lists surgeries, medicines, and emergency steps for caregivers and schools. American College of Cardiology
When to see doctors (red flags)
Seek urgent care for fast breathing, poor feeding, bluish color, or sudden swelling (heart failure signs), fever or wound redness after any surgery, eye redness/pain or sudden vision changes after eyelid procedures, persistent constipation, severe pain, or stool leakage after PSARP, and new loss of hand function or severe pain after hand surgery. These can signal treatable complications that need rapid attention from your child’s team. NCBI+2Medscape+2
What to eat and what to avoid
Eat: Energy-dense feeds or fortified breast milk as advised; balanced diet with adequate protein, fruits/vegetables for fiber (post-repair and per surgeon’s plan), and enough fluids to keep stools soft. Avoid/limit: Very low-calorie diets that risk poor growth; constipating foods right after ARM repair unless balanced with fiber and fluids; and unproven supplements or “stem-cell” products marketed online. Always follow your surgeon and dietitian’s instructions; nutrition is individualized. American College of Cardiology+1
Frequently asked questions
1) Is there a genetic test for this syndrome?
No specific gene is confirmed yet; genetics teams assess clinically and may test for related conditions. PubMed+1
2) Is this the same as “Temple syndrome” (maternal UPD14)?
No—Temple syndrome (TS14) is a different imprinting disorder with growth restriction and early puberty; it is unrelated to this AVSD-blepharophimosis-anal/radial pattern. Nature+1
3) What gets treated first?
Usually the heart problem (AVSD) is prioritized, with careful timing to protect the lungs; other repairs are staged around that plan. American College of Cardiology
4) Will my child always need heart medicines?
Medicines help before surgery; after a successful repair many children no longer need them, but follow-up is lifelong. American College of Cardiology
5) Can eyelid problems damage vision?
Yes—untreated severe ptosis/blepharophimosis can cause amblyopia; that’s why early eye care and staged surgery are important. NCBI
6) What is PSARP and why is it common here?
PSARP is a pull-through operation to create a correctly placed anus. It’s standard for many anorectal malformations. Medscape
7) Will my child achieve bowel control?
Many children do well with a structured bowel program; outcomes vary with anatomy and nerve/sphincter status. Pediatric Surgery Library
8) Why would the index finger be moved to act like a thumb?
This pollicization restores pinch and grip when the thumb is absent or nonfunctional. PubMed Central
9) Is strabismus part of this syndrome?
Strabismus can occur; regular orthoptic checks and treatment protect binocular vision. NCBI
10) Are there lifestyle restrictions after heart repair?
Children usually return to normal play with cardiology guidance; competitive sports decisions are individualized. American College of Cardiology
11) Do we need antibiotics before dental work?
Your cardiologist will advise based on the type of repair and residual lesions; good dental care is always key. American College of Cardiology
12) Is this condition related to Down syndrome?
AVSD is common in Down syndrome, but this syndrome is distinct; your team checks for any coexisting genetic diagnoses. NCBI
13) Will my child need more surgeries later?
Possibly—some children need revision of eyelid, bowel, or hand procedures as they grow, and heart valves require lifelong surveillance. American College of Cardiology
14) Where can I read a medical summary about this exact syndrome?
See the 1994 sibling case report and rare-disease listings that summarize features under the Houlston-Ironton-Temple name. PubMed+1
15) Is there a patient community?
Because it’s ultra-rare, families often connect through broader congenital heart, ARM, and limb-difference groups, which provide practical support. (General resource approach reflected in specialty guidelines.) American College of Cardiology+1
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The article is written by Team RxHarun and reviewed by the Rx Editorial Board Members
Last Updated: September 26, 2025.
