Camptodactyly with Fibrous Tissue Hyperplasia and Skeletal Dysplasia

Camptodactyly means a finger (usually the little finger) is stuck in a bent position at the middle (PIP) joint from birth or early childhood. In “camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia,” the bent fingers occur alongside overgrowth of fibrous soft tissue and broader changes in bone and cartilage growth (a skeletal dysplasia). It’s very rare, likely genetic, and diagnosis relies on clinical examination, hand imaging, and exclusion of other causes. Most guidance comes from broader camptodactyly literature: gentle stretching, splinting, and—only when function is limited—selective surgery. Outcomes vary because multiple structures (skin, tendon, muscle, joint capsule) can be tight. GARD Information Center+2Orthobullets+2

Although the exact gene(s) for this specific named syndrome are not well defined publicly, GARD/NORD describe it as a genetic chondrodysplastic malformation syndrome with very low prevalence, often recognized in newborns. In practice, clinicians also screen for camptodactyly-associated syndromes (e.g., CACP, DiGeorge) and broader skeletal dysplasias if there are red flags like short stature, multiple bone anomalies, or arthropathy. Genetic counseling is reasonable when a syndromic pattern is suspected. JPRAS Open+3GARD Information Center+3National Organization for Rare Disorders+3

This condition is a very rare syndrome. It combines three main features:

• Camptodactyly: one or more fingers stay bent and cannot fully straighten, most often at the middle joint. It is a fixed flexion deformity, usually painless, and can be present at birth or appear later in childhood. Orthobullets+1

• Fibrous tissue hyperplasia: extra growth of firm, fibrous tissue in or around the fingers or hands. In children, similar benign overgrowths are described as “infantile digital fibroma/fibromatosis,” which are small nodules made of fibroblastic cells. ScienceDirect+2DermNet®+2

• Skeletal dysplasia: abnormal growth or shape of bones (a chondrodysplasia pattern), sometimes with long thin fingers (arachnodactyly), scoliosis, and mild facial differences. This rare combination has been cataloged in major rare-disease databases and appears to have been described only in a handful of families, with very few reports since the early 1970s. Orpha+2GARD Information Center+2

Historically, similar “camptodactyly syndromes” were reported in the 1970s, including the Tel-Hashomer camptodactyly syndrome, an autosomal-recessive connective-tissue disorder with camptodactyly, muscle hypoplasia/weakness, skeletal anomalies, facial features, and distinctive fingerprints. These classic reports help explain the broader clinical picture but also underline how rare this group is. PubMed+1

---

Other names

• Camptodactyly–fibrous tissue hyperplasia–skeletal dysplasia syndrome (primary label in Orphanet/MONDO). Orpha+1

• Extremely rare chondrodysplastic malformation syndrome with camptodactyly (GARD description). GARD Information Center

• (Related literature term) Tel-Hashomer camptodactyly syndrome (camptodactyly with muscular hypoplasia, skeletal anomalies, abnormal palmar creases). While not identical, it is often discussed alongside this entity in reviews of camptodactyly syndromes. PubMed+1

---

Types

Because cases are so few, there is no universal subtype system. Clinicians often sort cases by practical features:

1. By onset

• Congenital/early-onset: present at birth or in early childhood (common for camptodactyly and pediatric fibromatoses). MDPI+1

• Later-childhood onset: long thin fingers and bending may become clear around age ~10 in some reports. Orpha+1

2. By distribution

• Isolated hand-dominant form: deformity mostly in the fingers/hands with local fibrous tissue overgrowth. Orthobullets+1

• Syndromic form with skeletal findings: includes arachnodactyly, scoliosis, and mild facial features. Orpha+1

3. By severity of finger contracture

• Mild: small fixed bend, often flexible.

• Moderate: functional limits in grip or fine tasks.

• Severe: large contracture, sometimes affecting multiple digits and daily function (general camptodactyly severity framework). MDPI

4. By tissue involvement

• Predominantly soft-tissue (fibrous) involvement: palpable nodules or tight bands. ScienceDirect

• Predominantly skeletal dysplasia involvement: evident bone shape or alignment changes (arachnodactyly, scoliosis). Orpha

---

Causes

Because the disorder is ultra-rare, exact causes are not fully known. The items below reflect how clinicians think about possible causes and contributors in camptodactyly-syndrome biology and pediatric fibrous overgrowths:

1. Inherited connective-tissue disorder (suspected autosomal recessive pattern in classic camptodactyly syndromes like Tel-Hashomer). This can change how tendons, fascia, and skin develop and heal. PubMed+1

2. Abnormal tendon–muscle balance in the finger (e.g., lumbrical anomalies inserting into the flexor system), creating persistent flexion at the PIP joint. World Scientific

3. Fibrous tissue overgrowth (hyperplasia) in the finger pads, tendon sheaths, or fascia, which can tether joints in a bent position. ScienceDirect

4. Infantile digital fibromatosis–like biology (benign fibroblastic nodules in early life) that limit joint extension. DermNet®+1

5. Abnormal collagen or extracellular matrix formation leading to stiff tissues and contractures (general concept in connective-tissue dysplasias). PubMed

6. Skeletal dysplasia pathway changes affecting cartilage growth at growth plates, resulting in long, thin fingers and spinal curvature. Orpha

7. Developmental patterning issues in limb buds during early fetal growth, which can alter finger joints and soft tissues (framework drawn from camptodactyly reviews). MDPI

8. Muscle hypoplasia/weakness in the intrinsic hand muscles, reducing extension force at the fingers. MalaCards

9. Abnormal palmar skin and fascia (abnormal creases, thick bands) that restrict extension. MalaCards

10. Scoliosis-related biomechanics changing upper-limb posture and soft-tissue tension (part of the broader skeletal phenotype). Orpha

11. Scar-like fibrosis in tendon sheaths from micro-injury or abnormal healing, tightening finger flexion over time (soft-tissue tumor/fibromatosis literature concept). ScienceDirect

12. Chromosomal or single-gene variants (not yet defined for this exact label, but some camptodactyly syndromes likely genetic). PubMed

13. Abnormal dermatoglyphics reflect altered fetal skin/tendon development; may co-occur with camptodactyly syndromes. PubMed

14. Arachnodactyly phenotype drivers (elongated slender digits) that accompany connective-tissue change and can predispose to flexion deformity. Orpha

15. Generalized connective-tissue laxity in some areas and stiffness in others, creating imbalanced forces at a joint. MDPI

16. Contracture cascade: once a joint stays bent, the capsule and surrounding tissues adapt and tighten, deepening the deformity. MDPI

17. Postural habits in childhood that reinforce flexion in already vulnerable joints (secondary perpetuating factor, not a root cause). MDPI

18. Growth-spurts unmasking deformity (deformity becomes more visible around pre-teen years in some cases). Orpha

19. Coexisting benign fibrous tumors of the hand in pediatric populations, which can mechanically limit motion. ScienceDirect

20. Unknown/idiopathic mechanisms: most reported families are too few to pin down one pathway; rarity limits research. GARD Information Center+1

---

Symptoms

1. Bent fingers that do not fully straighten (camptodactyly)—often at the middle joint; sometimes more than one finger is involved. Orthobullets

2. Tight, firm tissue in the fingers or palm—may feel like bands or nodules that make extension hard. ScienceDirect

3. Long, slender fingers (arachnodactyly)—gives the hands a thin, elongated look. Orpha

4. Hand weakness or reduced grip variety—fine tasks can be harder if joints stay bent. MDPI

5. Stiffness after rest—bending may feel “locked in,” especially in the morning or after inactivity. MDPI

6. Visible nodules on fingers/toes in infancy or childhood—benign fibroblastic overgrowths in some children. DermNet®

7. Scoliosis—sideways curve of the spine in some patients as part of the skeletal dysplasia picture. Orpha

8. Mild facial features—reports mention a broad nose and flared nostrils in some cases. GARD Information Center

9. Abnormal palmar creases or dermatoglyphics—fingerprint and crease patterns may be unusual. PubMed

10. Limited finger span and reach—difficulty opening the hand widely. MDPI

11. Functional difficulty with writing, buttons, or small objects—everyday tasks can take longer. MDPI

12. Toe involvement—less common, but toe deformities can occur in camptodactyly syndromes. Wikipedia

13. Postural fatigue—tension from contractures can cause hand/forearm fatigue with use. MDPI

14. Cosmetic concern—hand shape differences may impact confidence, especially in teens. MDPI

15. Occasional mild learning issues reported in some families; not universal. GARD Information Center

---

Diagnostic tests

A) Physical examination (bedside assessment)

1. Joint-range check (active and passive)
   The clinician measures how far the finger can straighten and bend. They compare both hands and look for stiffness, pain, or “end-feel.” This defines severity and guides therapy. MDPI

2. Contracture grading
   A simple scale (mild/moderate/severe) documents how fixed the bend is and whether it is progressing. This helps track changes over time. MDPI

3. Palpation for fibrous bands or nodules
   The examiner gently feels the palm and fingers to detect tight cords or firm lumps that could restrict motion. ScienceDirect

4. Intrinsic and extrinsic muscle balance tests
   Simple bedside maneuvers check if lumbricals, interossei, and flexor/extensor tendons are balanced or if one side is dominant. Imbalance often underlies camptodactyly. World Scientific

5. Spine and limb screening
   The clinician looks for scoliosis, long thin digits, and other skeletal signs that point to a syndromic pattern rather than an isolated finger problem. Orpha

B) Manual/functional tests (clinic-based function)

6. Grip and pinch assessment
   Hand therapists measure grip and pinch strength to see how the contracture affects function in daily life. Values serve as a baseline for therapy. MDPI

7. Functional task testing
   Timed tasks like picking up coins, buttoning, and writing show real-world impact and improvement with treatment. MDPI

8. Stretch response test
   Gentle prolonged stretch assesses whether soft tissues “give.” If range improves with sustained stretch, non-operative therapy is more likely to help. MDPI

9. Splint trial
   Short trial of extension splints or serial casting helps predict long-term response to orthoses and therapy. MDPI

10. Posture and ergonomic screening
    Therapists check wrist/forearm posture and task setup; poor posture can perpetuate flexion forces and can be modified. MDPI

C) Laboratory and pathological tests

11. Basic lab tests
    Routine blood work is usually normal; labs mainly exclude inflammatory or metabolic disorders if the history is atypical. This helps rule out other causes of contracture. (General diagnostic principle; specific labs are not disease-defining here.) MDPI

12. Pathology of a fibrous nodule (if removed)
    If a nodule is excised, the pathologist may see a benign fibroblastic/myofibroblastic proliferation consistent with infantile digital fibromatosis patterns in children. This confirms the benign nature of the fibrous overgrowth. Wikipedia

13. Connective-tissue/skin biopsy (rarely needed)
    Only considered if there is diagnostic doubt or to study abnormal palmar skin/creases in a research setting. Most cases are diagnosed clinically. PubMed

14. Genetic testing (exploratory)
    Because reported families are few and a single gene is not established for this label, genetic testing is individualized—aimed at ruling in/out overlapping syndromes when suspected. MalaCards

D) Electrodiagnostic tests

15. Nerve conduction studies
    Usually normal. They are used if there is numbness, weakness, or a question of nerve entrapment that might mimic or worsen a finger posture problem. (General hand-deformity workup principle.) MDPI

16. Electromyography (EMG)
    Considered if muscle weakness or muscle hypoplasia is suspected; helps separate a neural issue from a mechanical contracture. (Used selectively in camptodactyly workups.) MalaCards

E) Imaging tests

17. Plain radiographs (X-rays) of the hand
    X-rays show finger bones and joints, look for joint congruity, and can reveal dysplasia patterns. They also document baseline alignment for future comparison. Orthobullets

18. Spine radiographs
    If scoliosis is suspected, spine X-rays quantify the curve and guide orthopedic monitoring. Orpha

19. Ultrasound of soft tissues
    Non-invasive imaging can show tendon position, thickened sheaths, and fibrous nodules that tether motion. Useful in children because it avoids radiation. ScienceDirect

20. MRI of the hand
    MRI maps tendons, lumbricals, pulleys, and fibrous tissue in detail. It helps surgeons plan if an operation is considered for severe contracture. MDPI

Non-pharmacological treatments (therapies & others)

Below are practical, clinic-used options. (In real care, your therapist/surgeon will individualize the mix and schedule.)

1. Gentle passive stretching program — Parents or the patient hold the PIP joint in gradual extension several times daily. In infants and young children this can reduce flexion deformity and sometimes correct mild cases. Consistency matters more than force. ScienceDirect

2. Static extension splinting (night splint) — Custom thermoplastic splints hold the PIP in extension for hours (often at night) to provide low-load, prolonged stretch while tissues remodel. Early use improves results. Royal Children’s Hospital+1

3. Dynamic extension splinting — Spring or elastic-tension orthoses apply continuous gentle force with allowance for motion, useful when static splints alone don’t maintain gains. SAGE Journals

4. Serial casting — Short-interval casts gradually reposition the joint toward extension when splints are not enough or compliance is difficult; then convert to a night splint to maintain correction. handsurgeryresource.net

5. Relative motion orthosis — Positions neighboring joints to increase extensor tendon efficiency and reduce flexion lag during functional activities, especially in adolescents. GC Hand Therapy

6. Targeted hand therapy — Therapist-guided protocols blend joint mobilization, intrinsic/extrinsic muscle stretching, and tendon-gliding to maintain gains and prevent recurrence. PMC

7. Strengthening of extensor mechanism — Once extension range improves, graded strengthening helps the patient actively hold the corrected position during daily tasks. PMC

8. Skin and scar management — When skin is tight or after surgery, massage, silicone sheeting, and desensitization maintain pliability and reduce contracture risk. Royal Children’s Hospital

9. Activity-based functional retraining — Writing, grasp-release, keyboarding, and instrument use are adapted to reinforce extension during real-life tasks. Royal Children’s Hospital

10. Orthotic wear-schedule coaching & adherence support — Structured wear logs and family coaching improve consistency—the biggest predictor of success in children. hand-therapy.co.uk

11. Post-operative therapy protocols — After releases/tenolysis, early controlled motion plus protective night splints reduce recurrence and stiffness. World Scientific

12. Heat modalities before stretching — Superficial heat can increase tissue extensibility so lower forces achieve the same stretch (adjunct only, not a standalone cure). Royal Children’s Hospital

13. Patient/parent education — Clear explanation of goals, gentle technique, and relapse risks drives long-term success. Royal Children’s Hospital

14. Monitoring protocol (therapist or clinic review) — Regular angle measurements (e.g., every 4–8 weeks) detect plateau/relapse early and guide escalation to casting or surgical referral. hand-therapy.co.uk

15. Custom daytime protective orthoses — Low-profile devices help maintain extension during school/work while allowing function. GC Hand Therapy

16. Edema control after intensive therapy/surgery — Elevation and gentle compression reduce swelling that can exacerbate stiffness. PMC

17. Skin lengthening through progressive stretch — For cases with volar skin contracture, long-duration low-load stretch via splints helps, sometimes obviating skin procedures. Royal Children’s Hospital

18. Team-based care (hand surgeon + therapist) — Coordinated plans improve timing of splints, casting, and (if needed) surgery. PMC

19. School/home program integration — Embedding short stretch routines into daily routines sustains gains without excessive clinic visits. hand-therapy.co.uk

20. Psychosocial support — For teens concerned about appearance or sports participation, counseling and practical adaptations improve adherence and quality of life. Royal Children’s Hospital

---

Drug treatments

Important: No drug is FDA-approved to reverse camptodactyly or skeletal dysplasia. The following are commonly used, label-supported medicines for pain/inflammation around therapy or surgery. Pediatric dosing, contraindications, and duration must follow the specific FDA label and clinician judgment.

1. Acetaminophen (oral/IV) — First-line for pain; lacks anti-inflammatory effect but has a favorable GI profile when used correctly. Monitor total daily dose to avoid liver toxicity (labels warn against exceeding max mg/kg/day). Typical pediatric oral doses are weight-based; IV acetaminophen is available peri-operatively. FDA Access Data+1

2. Ibuprofen (oral) — NSAID analgesic/anti-inflammatory useful for short courses after splinting escalation or minor procedures. Observe boxed warnings (CV/GI risks) and avoid around CABG. Use the smallest effective dose for the shortest time. OTC and Rx labels provide dosing guidance. FDA Access Data+1

3. Naproxen (oral) — Longer-acting NSAID alternative for adolescents; same class-wide boxed warnings (CV/GI). Consider gastroprotection in at-risk patients. FDA Access Data

4. Celecoxib (oral) — COX-2 selective NSAID that may reduce GI ulcer risk versus nonselective NSAIDs, but retains boxed CV risk; avoid in sulfonamide allergy. Some formulations (capsules, oral solution) exist. Use only when appropriate for age/indication per label. FDA Access Data+1

5. Diclofenac topical (gel/solution) — Local NSAID option to help focal hand pain with lower systemic exposure—still carries NSAID class boxed warnings. Not for use on open skin or near surgery incisions unless cleared by the surgeon. FDA Access Data+1

6. Lidocaine topical systems (patches) — Local anesthetic patches for focal neuropathic-type pain (PHN is the labeled indication), sometimes used off-label for localized hand pain; adhere strictly to patch time/number limits and methemoglobinemia cautions. FDA Access Data+1

7. Short peri-operative antibiotics (procedure-specific) — Given per surgical protocol to reduce infection risk; choice/dose follow standard pediatric surgical prophylaxis, not specific to camptodactyly. (General principle; no disease-specific label exists.) Jhandsurg

8. Topical diclofenac after minor soft-tissue irritation — As an adjunct when splinting irritates peri-articular tissues, with surgeon/therapist approval; follow application limits. FDA Access Data

(Above medicines treat pain/inflammation; none alter the underlying congenital tissue pattern. Use under clinician supervision.) PMC

---

Dietary molecular supplements

There is no supplement proven to correct this deformity. Some may help general musculoskeletal health; discuss interactions and age-appropriateness.

1. Vitamin D — Supports bone/mineral health; correct deficiencies based on labs and local pediatric guidance. Medscape

2. Omega-3 fatty acids (fish oil) — Modest anti-inflammatory effects; choose tested products and appropriate pediatric doses. PMC

3. Calcium (dietary first) — Needed for skeletal health; avoid excess; prioritize food sources. Medscape

4. Protein/essential amino acids — Adequate intake supports tissue healing after procedures/therapy. PMC

5. Collagen peptides — Popular for tendons/skin; clinical evidence is mixed; safe when used appropriately. PMC

6. Magnesium — Addresses dietary gaps impacting muscle function and cramps; avoid excess. PMC

7. Vitamin C — Supports collagen synthesis and wound healing post-op. PMC

8. Zinc — Cofactor for healing; avoid high-dose chronic use. PMC

9. B-complex — General nutritional support if intake is poor; not disease-specific. PMC

10. Turmeric/curcumin — Mild anti-inflammatory activity; watch for drug interactions and variable quality. PMC

---

Immunity-booster / regenerative / stem-cell drugs

There are no FDA-approved “immunity boosters,” regenerative biologies, or stem-cell drugs proven to treat camptodactyly or this syndrome. Use caution with marketing claims; if proposed, it should be within a registered clinical trial with ethics oversight. Supportive care (vaccinations per schedule, nutrition, sleep) is what safely supports immunity. PMC

If you see terms like “PRP,” “stem cells,” or “biologic injections” advertised for pediatric finger contractures, ask for randomized data and regulatory status; none currently establish benefit in camptodactyly. MDPI

---

Surgeries (what they do, and why)

1. Soft-tissue release & Z-plasty of volar skin — Lengthens tight skin and releases contracted volar structures when splinting fails and the contracture is function-limiting. Often combined with tendon procedures; requires diligent post-op splinting/therapy to avoid recurrence. Jhandsurg+1
2. Flexor digitorum superficialis (FDS) lengthening or tenotomy — Addresses an anomalous/short FDS or abnormal lumbrical/FDS insertion identified on exam or imaging; goal is to reduce flexion force across the PIP while preserving function. handsurgeryresource.net
3. Capsulotomy / volar plate release (PIP joint) — For fixed joint contractures, carefully releasing the joint capsule/volar plate can allow extension; risk includes stiffness or instability without careful rehab. Jhandsurg
4. Tendon transfer or re-balancing — Selected when extensor mechanism is weak relative to flexors; individualized by intraoperative findings; always followed by structured therapy. Jhandsurg
5. Skeletal procedures (rare) — In severe, rigid deformities or recurrent cases, surgeons may consider osteotomy or PIP arthrodesis in a functional position for pain-free stability, typically in older adolescents/adults after exhausting other options. Jhandsurg

---

Preventions

While the congenital tendency cannot be “prevented,” these steps can help prevent worsening and recurrence:

1. Start gentle stretching early and keep it consistent. ScienceDirect

2. Use night splints as prescribed; don’t over-tighten. Royal Children’s Hospital

3. Attend regular therapy check-ins to adjust the plan. hand-therapy.co.uk

4. Integrate mini-stretch breaks into daily routines. hand-therapy.co.uk

5. Protect skin under splints (padding, skincare). Royal Children’s Hospital

6. After surgery, follow the rehabilitation timeline exactly. World Scientific

7. Keep a wear/therapy log for adherence. hand-therapy.co.uk

8. Optimize general health (sleep, nutrition, vaccinations). Medscape

9. Use daytime functional orthoses during high-risk tasks. GC Hand Therapy

10. Seek early review if extension begins to slip. hand-therapy.co.uk

---

When to see a doctor

See a pediatric hand specialist or hand therapist if a newborn’s finger will not straighten; if a child’s flexion angle worsens over weeks to months; if home stretching or splints become painful; if the finger becomes stiff despite diligent therapy; if there is skin breakdown from orthoses; or if function (writing, hygiene, grasp) is impaired. After any operation, contact the team promptly for swelling, fever, severe pain, or loss of motion. Early specialist input improves outcomes. Orthobullets+1

---

What to eat and what to avoid

Aim for a balanced diet that supports growing bones and healing tissues after therapy/surgery: regular protein (fish, poultry, legumes), dairy or fortified alternatives for calcium, fruits/vegetables for vitamins C and K, and adequate vitamin D per local guidance. Limit ultra-processed foods high in sugar/salt, avoid excessive supplements without indication, and maintain good hydration. This supports general musculoskeletal health but does not straighten a congenitally bent finger. Medscape

---

FAQs

1) Is this my child’s fault? No. It’s a congenital condition related to how soft tissues and bones developed. GARD Information Center

2) Can stretching fix it? Often, especially in infants/young children with mild angles—if done gently and consistently. ScienceDirect

3) Do splints really work? Yes; night splints are a mainstay and are most effective with early, consistent use. Royal Children’s Hospital

4) When is surgery needed? When a fixed contracture limits function and months of good conservative care fail. Jhandsurg

5) Will it come back after surgery? It can, without strict rehab and splinting; adherence lowers the risk. World Scientific

6) Is there a pill to cure it? No. Medicines help pain or swelling; none change the congenital pattern. PMC

7) Are injections like “stem cells” proven? No—not for camptodactyly. Be cautious with unproven therapies. MDPI

8) Could it be part of a syndrome? Sometimes. Doctors check for features suggesting a broader skeletal dysplasia or specific syndromes. Medscape

9) Which finger is most affected? The little finger’s PIP joint is most common, but others can be involved. ScienceDirect

10) Can therapy hurt growth plates? Properly supervised, gentle therapy is safe; avoid forceful, painful stretching. Royal Children’s Hospital

11) How long do we splint? Often months; many continue night splints longer to prevent relapse. Your team individualizes the schedule. SAGE Journals

12) Will my child write or type normally? Most children adapt well with therapy and functional orthoses when needed. Royal Children’s Hospital

13) Are both hands affected? It can be one or both; patterns vary by case and any associated syndrome. GARD Information Center

14) What are the surgical risks? Stiffness, skin problems, recurrence, tendon imbalance; these are minimized with careful technique plus strict rehab. Jhandsurg

15) Who should manage this? A team including a pediatric hand surgeon and certified hand therapist (CHT). PMC

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: November 09, 2025.

PDF Documents For This Disease Condition References