Holmes–Collins Syndrome

Holmes–Collins syndrome is an extremely rare genetic condition present from birth. Children have a combination of limb differences (most characteristically a missing or very under-developed shin bone—the tibia—in one or both legs), extra fingers or toes (polydactyly), sometimes joined toes (syndactyly), and, in the brain, a fluid-filled sac called a retro-cerebellar arachnoid cyst. Some babies may also have clubfeet, cleft lip, chest/diaphragm problems, or changes in the bones of the forearm (radius/ulna). Doctors recognized this unique cluster in members of the same family and described it as a new, likely autosomal-recessive syndrome (both parents silently carry a change and each pregnancy has a 25% chance). Because it is so rare, the exact gene is not fully established, and treatment focuses on each child’s individual needs, especially orthopedic and neurosurgical care plus therapies and family support. Genetic Diseases Info CenterOrphaWikipediaPubMed

Holmes–Collins syndrome is an extremely rare genetic condition seen in very few families in the world. Doctors first described it in 1995 in three brothers and sisters from the same parents who were related to each other (consanguineous). These children had three main findings:

1. the shin bone (tibia) in the lower leg was missing or very small,

2. there were extra fingers or toes (polydactyly) and sometimes fusing of toes (syndactyly), and

3. there was a fluid-filled sac behind the cerebellum in the brain called a retrocerebellar arachnoid cyst.

Some children also had clubfoot, cleft lip, and arm bone changes. The pattern suggested a new autosomal recessive syndrome (a child is affected when they get the non-working copy of the gene from both parents). The exact gene is still unknown. Because so few cases exist, all our knowledge comes from these original reports and rare disease summaries. PMCBMJ Journals+1OrphaGenetic Diseases Info Center

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Other names

• Holmes–Collins syndrome

• Absent tibia–polydactyly–arachnoid cyst syndrome

• Tibia absence/hypoplasia with polydactyly and retrocerebellar arachnoid cyst
  All these names refer to the same very rare pattern first described by Holmes and colleagues. WikipediaOrpha

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Types

There are no official medical subtypes yet, because we have so few patients. But for simple understanding and care planning, doctors may group cases by the mix and severity of features:

1. Tibial involvement type

   • Complete absence of tibia: the shin bone is missing.

   • Tibial hypoplasia: the shin bone is present but very small or under-formed.
     These differences change how a child stands, walks, and which surgeries or braces are needed. PMC

2. Polydactyly pattern type

   • Pre-axial polydactyly (thumb/big-toe side),

   • Post-axial polydactyly (little-finger/little-toe side),

   • Mixed polydactyly (both sides) ± syndactyly (fused toes).
     The type affects hand/foot function and surgical planning. Wikipedia

3. Brain cyst involvement type

   • With retrocerebellar arachnoid cyst (may be silent or cause pressure symptoms),

   • Without apparent cyst (if not seen or not imaged).
     This helps decide how closely neurosurgery should follow the child. PMC

These are practical groupings, not official subtypes. They help teams organize care in the clinic.

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Causes and biological mechanisms

Key point: The exact gene is unknown. The syndrome looks autosomal recessive. So the items below are plausible mechanisms drawn from what we know about limb and brain development and from the 1995 report. They explain how this pattern might arise, even if we have not found the exact gene. PMCWikipedia

1. Autosomal recessive inheritance – a child inherits the same hidden, non-working gene copy from both parents; parents are healthy carriers. PMC

2. Early limb bud signaling error – tiny mistakes in the chemical signals that tell the leg bud to grow can shrink or remove the tibia.

3. Front-to-back limb patterning drift – shifts in the normal gradient that sets the thumb/big-toe versus little-finger/little-toe side can create extra digits (polydactyly).

4. HOX gene pathway disturbance (functional) – even though the 1995 paper did not find changes in some HOX genes, the limb patterning network they belong to may still be affected upstream or downstream. BMJ Journals

5. Sonic Hedgehog (SHH) pathway imbalance – this pathway helps place digits; abnormal levels can cause polydactyly in many conditions.

6. GLI3 transcription regulation issues – GLI3 works with SHH; changes in timing/amount can lead to extra digits.

7. FGF/TBX network variance – fibroblast growth factors and TBX genes guide outgrowth of the limb bud; reduced drive can shrink the tibia.

8. WNT signaling shifts – WNT signals help set dorsal-ventral patterns in limbs; changes can affect bones and digits.

9. Ciliary signaling defects – tiny cell “antennae” (cilia) coordinate SHH; cilia problems often cause polydactyly and brain cysts in other disorders.

10. Neural crest–mesenchyme coordination error – cross-talk between early nerve cells and limb mesenchyme may be off, affecting bone templates.

11. Extracellular matrix assembly defects – the scaffold around cells shapes bones; subtle faults can lead to hypoplastic tibia.

12. Vascular patterning variations – early blood supply directs bone growth; abnormal flow may stunt the tibia region.

13. Programmed cell death (apoptosis) timing errors – digits form when tissue between them dies at the right time; timing errors can leave extra digits or fused toes.

14. Endochondral ossification delay – bone forms from cartilage models; slowing this process can leave small, weak bones.

15. Primary meningeal/arachnoid development variation – small errors while the brain coverings form can create an arachnoid cyst behind the cerebellum.

16. Posterior fossa (hindbrain) morphogenesis change – shaping of the skull space behind the cerebellum can make room where fluid collects.

17. Modifier genes – background genes can make features milder or more severe in different siblings.

18. Epigenetic regulation changes – switches that control when genes turn on/off in embryos can slightly mis-time limb/brain development.

19. Environmental cofactors (rare/uncertain) – although no exposures were proven in the original family, severe early exposures sometimes modify congenital patterns; none are established here. PMC

20. A single, yet-unknown developmental gene – the most likely cause is a mutation in one gene central to both limb patterning and arachnoid membrane formation; research and exome/genome sequencing might identify it in the future.

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Symptoms and clinical features

Not every child has all features. The original report showed a core triad with some extra problems in some children. PMCWikipedia

1. Missing shin bone (tibia aplasia) – the leg cannot bear weight normally; the knee and ankle do not line up well.

2. Small shin bone (tibia hypoplasia) – the leg bone is present but short/thin; walking is unstable and tiring. PMC

3. Extra fingers/toes (polydactyly) – there may be an extra little finger/toe or an extra thumb/big toe; function and shoe fit can be affected. Wikipedia

4. Fused toes (syndactyly) – some toes may be joined by skin; balance and footwear can be tricky. Wikipedia

5. Clubfoot – foot points down/in; makes standing and walking hard if not corrected. Wikipedia

6. Retrocerebellar arachnoid cyst – a fluid sac behind the cerebellum; often silent, but can cause headache, nausea, poor balance, or eye movement issues if it presses on nearby tissue. PMC

7. Facial differences (dysmorphism) – subtle changes in face shape noted by geneticists; usually do not affect thinking. Wikipedia

8. Cleft lip (sometimes) – split in the upper lip that may need surgery for feeding, speech, and appearance. Wikipedia

9. Arm bone changes – radius/ulna differences can change wrist/forearm function. Wikipedia

10. Leg length difference – one leg may be shorter; limping and back strain can follow.

11. Knee/ankle instability – the joints may feel loose because the tibia is missing or small.

12. Calluses and skin breakdown – pressure points on an abnormal foot can cause sores.

13. Delayed walking – children may walk later due to bone and joint alignment issues.

14. Balance trouble – from foot shape, leg differences, or pressure from the cyst near the cerebellum.

15. Breathing problems at birth (rare) – if diaphragm agenesis is present, the lungs cannot inflate well and urgent care is needed. (This was an additional finding in some reported cases.) Wikipedia

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Diagnostic tests

There is no single “yes/no” blood test for Holmes–Collins syndrome today. Diagnosis relies on careful exam, imaging, and broad genetic testing to rule in the pattern and rule out similar conditions. Because cases are so rare, your care team will tailor testing to the child’s exact needs. PMCOrpha

A) Physical examination

1. Full newborn/child physical exam – the clinician looks at limb length, joint position, digits, face, and skin. This frames the whole work-up.

2. Musculoskeletal exam – checks hip, knee, ankle alignment; range of motion; muscle tone; and gait (if walking).

3. Neurological exam – screens balance, coordination, eye movements, and reflexes for signs of a cyst pressing on brain tissue.

4. Craniofacial/cleft assessment – checks for cleft lip/palate and airway or feeding difficulties.

B) Manual/bedside functional tests

5. Gait observation and video analysis – watching how the child stands and walks shows instability, leg length difference, and energy cost of walking.

6. Joint stability testing – gentle stress of the knee/ankle to feel looseness when the tibia is small/absent.

7. Foot posture and pressure mapping – foam impressions or in-clinic pressure mats help plan braces or shoe inserts.

8. Developmental screening – simple play-based checks of gross/fine motor skills to plan therapy.

C) Laboratory and pathological tests

9. Genetic counseling session – to record family history (including consanguinity) and explain testing options. (The original family’s parents were related.) PMC

10. Chromosomal microarray (CMA) – looks for missing/extra DNA pieces; often first-line for congenital anomalies.

11. Single nucleotide polymorphism (SNP) microarray or comparable platform – helps detect uniparental disomy/regions of homozygosity in consanguineous families, guiding gene search.

12. Clinical exome sequencing (proband ± trio) – surveys the protein-coding parts of all genes to look for a shared, recessive mutation; most likely test to find the cause if one exists.

13. Research genome sequencing or gene panel (if available) – deeper or broader testing if exome is negative; in a research setting this may help identify the unknown gene for this syndrome.

Note: The 1995 team specifically did not find changes in HOXD10, HOXA9, HOXC9 in their family. This suggests the causal gene lies elsewhere in the development network. BMJ Journals

D) Electrodiagnostic tests

14. Electroencephalogram (EEG) – rarely used; if a child has spells or suspected seizures related to pressure effects or intercurrent conditions, EEG helps evaluate brain activity.

15. Nerve conduction studies/electromyography (NCS/EMG) – seldom needed; considered only if there is unusual weakness or to separate nerve/muscle issues from bone/joint causes of poor function.

16. Evoked potentials (visual or auditory) – optional if balance/vision/hearing symptoms suggest brainstem or cerebellar pathway stress from a large cyst.

E) Imaging tests

17. Plain X-rays of legs/feet/hands – show whether the tibia is absent or small, and map extra digits or fused toes for surgical planning. (Core test.) PMC

18. MRI brain (posterior fossa) – clearly shows a retrocerebellar arachnoid cyst, its size, and whether it presses on the cerebellum or nearby structures. (Often the best brain study.) PMC

19. Prenatal ultrasound (if suspected during pregnancy) – can detect limb bone absence/hypoplasia and sometimes a posterior fossa cyst before birth; helps delivery planning. Genetic Diseases Info Center

20. CT or 3D imaging for surgical planning – used selectively to understand complex limb/joint geometry before reconstruction or to map skull base/pit for neurosurgery if a cyst needs treatment.

Non-pharmacological treatments

(Requested breakdown: at least 15 physiotherapy items; plus mind–body, “gene therapy,” and educational therapy elements. Each item includes Description • Purpose • Mechanism • Benefits.)

Important: Not all options apply to every child. Plans are individualized by specialists. Items that are experimental are clearly labeled.

A) Physiotherapy & rehabilitation

1. Early positioning and splinting — Description: gentle, therapist-guided positioning with custom splints for feet/ankles/hands. Purpose: prevent contractures and improve alignment for future bracing or surgery. Mechanism: low-load, prolonged stretch and joint protection. Benefits: better range of motion (ROM), easier shoe/prosthesis fitting.

2. Stretching protocols for hamstrings, gastrosoleus, and foot intrinsics — Description: daily home and clinic stretches. Purpose: counter tightness from atypical limb mechanics. Mechanism: viscoelastic tissue remodeling. Benefits: improved gait potential, reduced pain.

3. Strengthening of hip abductors/extensors and core — Description: age-appropriate resisted play/exercises. Purpose: compensate for tibial deficiency and support prosthetic use. Mechanism: hypertrophy/neuromuscular recruitment. Benefits: better balance and endurance.

4. Task-specific gait training — Description: treadmill/over-ground practice with supports or body-weight suspension. Purpose: build safe walking patterns with orthoses or prosthesis. Mechanism: motor learning and neural plasticity. Benefits: earlier functional ambulation.

5. Orthotic management (AFOs, KAFOs, shoe inserts) — Description: custom braces to stabilize ankle/knee/foot. Purpose: align joints and distribute pressure. Mechanism: external control of motion/forces. Benefits: safer mobility, fewer falls.

6. Prosthetic training (if amputation or knee disarticulation is performed) — Description: staged fittings with progressive sockets and gait training. Purpose: enable standing/walking and participation. Mechanism: energy-efficient gait mechanics with device interface optimization. Benefits: independence in mobility.

7. Serial casting for foot deformity — Description: weekly casts to gradually correct clubfoot-like positions (often prior to surgery). Purpose: improve alignment. Mechanism: progressive soft-tissue lengthening. Benefits: easier bracing/shoe wear.

8. Hand therapy after polydactyly/syndactyly surgery — Description: edema control, scar mobilization, fine-motor exercises. Purpose: maximize function/cosmesis post-repair. Mechanism: collagen remodeling and neuromotor retraining. Benefits: stronger grip/pinch; better dexterity. PMC+1Medscape

9. Balance and proprioception drills — Description: wobble boards, obstacle play. Purpose: stabilize joints and reduce falls. Mechanism: sensory-motor integration. Benefits: confidence and safety.

10. Aquatic therapy — Description: buoyancy-assisted movement in a warm pool. Purpose: pain-free ROM and conditioning. Mechanism: reduced joint load, resistance of water. Benefits: endurance with minimal stress.

11. Constraint-induced and bimanual training for hand use — Description: playful tasks that encourage use of the surgically reconstructed or more affected hand. Purpose: strengthen neuroplastic use. Mechanism: cortical re-mapping. Benefits: better two-hand tasks.

12. Functional electrical stimulation (FES) where appropriate — Description: clinician-guided surface stimulation for weak muscle groups. Purpose: augment muscle recruitment. Mechanism: depolarization of motor units. Benefits: improved timing/strength (selected cases).

13. Pain neuroscience education + graded activity — Description: teach child/caregivers about pain and safe movement. Purpose: reduce fear-avoidance. Mechanism: cognitive reframing and graded exposure. Benefits: higher activity levels.

14. Pressure care and skin monitoring routines — Description: scheduled checks under orthoses/prosthesis. Purpose: prevent pressure sores. Mechanism: early detection and off-loading. Benefits: fewer skin complications.

15. Adaptive sport & play coaching — Description: customized rules/equipment. Purpose: participation and fitness. Mechanism: skill progression within abilities. Benefits: social inclusion, cardiovascular health.

B) Mind–body & psychosocial supports

16. Family-centered counseling — addresses coping, expectations, and sibling dynamics; improves adherence and well-being.

17. Age-appropriate cognitive-behavioral therapy (CBT) — reduces anxiety related to surgeries/hospital visits; builds self-advocacy.

18. Mindfulness/relaxation and breathing skills — helps pain episodes or MRI/surgery anxiety; improves self-regulation.

19. Peer support groups/rare-disease communities — reduces isolation; connects families to practical tips and resources.

20. Social work/benefits navigation — secures mobility aids, school accommodations, and transportation support.

21. Vocational and transition planning (adolescence onward) — prepares for adult independence, driving, and career paths.

C) Educational therapy & school supports

22. Individualized Education Program (IEP)/504 accommodations — seating, elevator access, extra time between classes, adaptive PE.

23. Assistive technology — pencil grips, voice-to-text, adapted keyboards; supports fine-motor challenges after hand surgery.

24. Pain-flare and appointment plans — school-clinician coordination for absences, PT visits, and recovery periods.

D) About “gene therapy” in this condition (clarification)

25. Research-stage genetic approaches (EXPERIMENTAL, not standard care) — While some genetic skeletal disorders have research into gene-targeted strategies, there is currently no approved gene therapy for tibial absence/polydactyly syndromes, and none specifically for Holmes–Collins syndrome. Families may be eligible for research registries or natural-history studies, but any gene-based treatment should only occur inside regulated clinical trials. Genetic Diseases Info CenterOrpha

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Drug (medicine) treatments

Key safety note: There is no disease-specific medicine that “cures” Holmes–Collins syndrome. Medications are supportive and must be prescribed by a clinician (often weight-based in children). Typical purposes, mechanisms, and common side effects are listed here in plain language; exact doses/timing are individualized.

1. Analgesics (acetaminophen/paracetamol) — Purpose: short-term pain after casting or surgery. Mechanism: central COX modulation. Side effects: generally well tolerated; liver risk with overdose.

2. NSAIDs (e.g., ibuprofen; specialist-guided use) — Purpose: pain/inflammation control. Mechanism: COX inhibition. Side effects: stomach upset, kidney risk with dehydration; peri-operative use varies by surgeon.

3. Opioids (short, post-op only, if needed) — Purpose: severe immediate post-surgical pain. Mechanism: μ-opioid receptor agonism. Side effects: drowsiness, constipation, dependence risk; tight stewardship in pediatrics.

4. Antibiotics (peri-operative prophylaxis) — Purpose: reduce surgical infection risk. Mechanism: pathogen-specific; given per hospital protocol. Side effects: diarrhea, allergy.

5. Antiemetics (ondansetron) — Purpose: ease post-op nausea. Mechanism: 5-HT3 blockade. Side effects: constipation, headache (usually mild).

6. Antispasmodics/muscle relaxants (e.g., diazepam in selected cases) — Purpose: painful spasms after limb surgery. Mechanism: GABA-A facilitation. Side effects: sedation; clinician-monitored.

7. Neuropathic pain agents (gabapentin in selected cases) — Purpose: nerve-related pain after procedures. Mechanism: α2δ calcium-channel modulation. Side effects: dizziness, fatigue.

8. Topical agents (local anesthetic creams) — Purpose: ease pain for dressing changes/needle procedures. Mechanism: sodium-channel blockade. Side effects: local irritation.

9. Anticonvulsants (if arachnoid cyst causes seizures) — Purpose: prevent seizures. Mechanism: varies (e.g., sodium-channel modulation). Side effects: drug-specific; neurologist-guided. Journal of Surgery and MedicineThe Journal of Neuroscience

10. Acetazolamide (selected intracranial pressure scenarios, specialist-only) — Purpose: reduce CSF production temporarily. Mechanism: carbonic anhydrase inhibition. Side effects: tingling, electrolyte changes; short-term bridge, not a cure. Surgical Neurology International

11. Bowel regimen (stool softeners/fiber) when using opioids — Purpose: prevent constipation. Mechanism: soften stool/increase bulk. Side effects: bloating if overused.

12. Vitamin D and calcium (when deficient) — Purpose: support bone health during rehab. Mechanism: bone mineralization. Side effects: high calcium if overdosed; check levels.

13. Iron (if iron-deficiency anemia is present) — Purpose: correct anemia that worsens fatigue from surgeries. Mechanism: hemoglobin synthesis. Side effects: stomach upset; dosing per weight.

14. Antibiotic ointments for pin-site care (if external fixators used) — Purpose: lower local infection risk. Mechanism: topical antimicrobial. Side effects: irritation/allergy.

15. Sedation/anxiolysis for procedures (short-acting, hospital-guided) — Purpose: comfort during imaging/casting. Mechanism: GABA or other pathways. Side effects: drowsiness; monitored setting.

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Dietary molecular supplements

Always discuss supplements with your clinician to avoid interactions and overdose.

1. Vitamin D3 — supports bone mineralization and muscle function; mechanism: increases intestinal calcium/phosphate absorption.

2. Calcium — structural mineral for bone; mechanism: provides substrate for mineralization.

3. Protein (whey or food-based) — aids post-op healing; mechanism: amino acids for tissue repair.

4. Omega-3 fatty acids (EPA/DHA) — may reduce post-op inflammatory pain modestly; mechanism: eicosanoid modulation.

5. Vitamin C — collagen cross-linking and wound healing; antioxidant role.

6. Zinc — cofactor in protein synthesis and wound repair.

7. Iron (if deficient) — improves energy and healing via hemoglobin synthesis.

8. Folate/B12 (if deficient) — red-cell formation; overall growth support.

9. Magnesium — muscle/nerve function; constipation support when opioids used.

10. Probiotics (peri-antibiotic use, clinician-approved) — restore gut flora; mechanism: competitive inhibition of pathogens.

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Regenerative / stem-cell drugs

• No immune-booster or stem-cell “drug” is approved to reverse tibial absence, create a missing bone, or correct polydactyly in humans. Limb regeneration remains experimental.

• What does exist:

  1. Autologous bone grafts (surgeon uses your own bone) — aids fusion/union; not a “drug.”

  2. Bone morphogenetic proteins (BMPs) — orthopedic biologics used selectively to enhance fusion; off-label in pediatrics requires specialist judgment.

  3. Distraction osteogenesis (Ilizarov techniques) — mechanical bone lengthening; a procedure, not a drug.

  4. Tissue-engineering scaffolds — research/limited clinical uses in reconstruction, not disease-specific.

  5. Mesenchymal stem cell (MSC) therapies — research stage; not approved for limb agenesis.

  6. Gene-based therapies — no approved therapy for Holmes–Collins syndrome; participation should be clinical-trial only.
     These clarifications protect families from misleading claims and keep care aligned with best-practice surgery and rehab. PMC

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Surgeries

1. Fibular transfer with centralization (Brown procedure) in tibial absence — Procedure: the fibula is transferred/centralized to function in the tibia’s position, often combined with foot procedures; done in carefully selected children with knee extensor power. Why: to create a plantigrade, braceable limb and enable walking. Evidence: classic and modern series describe indications and outcomes; selection is crucial. PubMedPMC

2. Knee disarticulation or below-knee amputation with early prosthesis — Procedure: surgical removal at or below the knee when reconstruction isn’t feasible or offers poor function. Why: allows reliable prosthetic gait and independence with fewer surgeries in some children. Evidence: considered a valid pathway alongside reconstruction in tibial hemimelia algorithms. PMC

3. Foot/ankle reconstruction and centralization — Procedure: osteotomies, tendon balancing, and centralization to align the foot under the leg. Why: to correct severe deformity and improve stance and shoe wear. Lippincott

4. Polydactyly/syndactyly correction (hand/foot) — Procedure: excision of the duplicate digit with ligament/tendon/nerve reconstruction; staged release of fused digits. Why: function, shoe fit, appearance, and hygiene. Timing: often around 6–24 months for feet/hands based on anatomy. PMCMedscapeHospital for Special Surgery

5. Arachnoid cyst surgery (when truly symptomatic) — Procedure: endoscopic or open fenestration to connect the cyst to normal CSF spaces, or cystoperitoneal shunt in select cases. Why: relieve cyst-related pressure causing headaches, seizures, developmental issues, or focal deficits. Indications must be strict—operate when symptoms clearly match the cyst. The Journal of NeurosciencePubMedSurgical Neurology InternationalCureus

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Prevention-style actions

1. Genetic counseling for parents and extended family to understand inheritance and future pregnancy options (including carrier testing if a gene is identified).

2. Avoid consanguineous marriages when possible in families with known cases to lower recessive-condition risk.

3. Preconception care: optimize maternal health, nutrition, and folate supplementation (supports general neural and fetal development).

4. Early, high-quality prenatal care and ultrasound to detect limb differences and plan delivery and neonatal support.

5. Deliver at a center with pediatric orthopedics/neurosurgery if anomalies are suspected.

6. Infection prevention around surgeries and devices (hand hygiene, pin-site care as taught).

7. Home safety plan (ramps/rails, non-slip surfaces) to reduce falls.

8. Skin care under braces/prostheses to prevent wounds.

9. Vaccinations per schedule to prevent illnesses that could delay surgeries or rehab.

10. Regular follow-up with growth monitoring—limb length differences and foot alignment can change as the child grows.

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When to see a doctor urgently or promptly

• New or worsening headaches, vomiting, seizures, imbalance, or visual changes (possible symptomatic arachnoid cyst). Journal of Surgery and Medicine

• Fever, redness, drainage, or bad odor around casts, pins, braces, or surgical sites.

• Sudden swelling or severe pain in the operated limb or foot.

• Pressure marks, blisters, or color changes under orthoses/prosthesis.

• Regression in walking/hand use or repeated falls.

• Feeding or breathing difficulty in infants (especially if other anomalies like cleft palate or diaphragm issues are present). Genetic Diseases Info Center

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Simple diet tips: what to eat and what to avoid

What to eat (support recovery and growth):

1. Protein-rich foods (fish, eggs, lentils, dairy) at each meal for healing.

2. Calcium sources (milk, yogurt, fortified alternatives, small fish with bones).

3. Vitamin D sources (egg yolks, oily fish) plus safe sun exposure as advised.

4. Vitamin C (citrus, guava, bell peppers) to help wound healing.

5. Iron-rich foods (meat, beans, spinach) with vitamin C to aid absorption.

6. Whole grains and fiber to offset post-op constipation.

7. Omega-3s (fish, flaxseed) to support general anti-inflammatory balance.

8. Plenty of fluids to stay hydrated, especially around surgeries.

9. Colorful fruits/vegetables for micronutrients and antioxidants.

10. Probiotic foods (yogurt/fermented foods) during/after antibiotics if your clinician agrees.

What to limit/avoid:

1. Sugary drinks and ultra-processed snacks that displace nutrients.

2. Excess salt that worsens swelling after surgery.

3. High-dose, unapproved supplements marketed as “bone regrowers” or “immune boosters.”

4. Herbal products that thin blood (e.g., high-dose garlic, ginkgo) before surgery—only with doctor approval.

5. Smoking or secondhand smoke exposure in the household (impairs bone and wound healing).

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Frequently asked questions (FAQs)

1. Is Holmes–Collins syndrome the same as Treacher Collins?
   No. Treacher Collins affects facial bones/ears/eyes; Holmes–Collins is defined by tibial absence/hypoplasia, polydactyly/syndactyly, and a retro-cerebellar arachnoid cyst (plus other anomalies). Different conditions. NCBIGenetic Diseases Info Center

2. How rare is it?
   Extremely rare—described in a small number of families; information comes from case reports/registries. PubMedOrpha

3. What causes it genetically?
   Likely autosomal recessive in the original family; a specific gene has not been firmly established for all cases. Genetic testing may still be useful to rule out overlapping conditions and to inform counseling. PubMed

4. Can an arachnoid cyst be left alone?
   Yes, many cysts are observed if there are no matching symptoms. Surgery is considered only when the cyst clearly causes problems (e.g., pressure effects, seizures). PubMedThe Journal of Neuroscience

5. What are the main surgical paths for a missing tibia?
   Either reconstruct/centralize the limb (e.g., fibular transfer) when anatomy allows, or amputate/disarticulate with early prosthesis when that will provide better, more reliable function. Decisions are individualized. PMC

6. Will my child walk?
   Many children do walk, using braces or a prosthesis. Early therapy and the right surgical path improve outcomes.

7. When is polydactyly surgery done?
   Often between 6 and 24 months, depending on the digit’s structure and function; hands and feet may differ in timing. MedscapeHospital for Special Surgery

8. Is gene therapy available now?
   No approved gene therapy exists for this syndrome. Research participation may be possible in the future. Genetic Diseases Info Center

9. What about stem-cell injections or “bone-growing” drugs?
   Not approved for creating a missing tibia or correcting polydactyly. Beware of unregulated claims. Reconstruction and prosthetics remain the standards. PMC

10. How often are check-ups needed?
    Regular visits (often every 3–6 months in early childhood, then tailored) with orthopedics/rehab; neurosurgery follow-up if a cyst is present—even if monitored only.

11. Can the cyst return after surgery?
    Cysts can re-enlarge or re-pressurize; follow-up imaging is common. Shunts may malfunction; fenestrations can close. The Journal of Neuroscience

12. Will my child need many surgeries?
    Possibly; staged procedures are common (foot alignment, hand surgery, limb reconstruction, later revisions as the child grows).

13. What helps recovery most?
    Consistent physiotherapy, skin care under braces/prosthesis, good nutrition, and family/school supports.

14. Can we prevent it in future pregnancies?
    Genetic counseling can discuss carrier testing (if available), prenatal ultrasound, and options like chorionic villus sampling or amniocentesis when a causative variant is found. Genetic Diseases Info Center

15. Where can we find trustworthy information and community?
    Rare-disease resources (NIH GARD, Orphanet) and limb-difference organizations; your hospital’s craniofacial/limb clinic can connect you with local supports. Genetic Diseases Info CenterOrpha

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 01, 2025.

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