Camptodactyly

Musculoskeletal Disorder MONDO:0007250 Pathograph 4 Congenital Limb Malformation Joint Disorder

Camptodactyly is a congenital or acquired condition characterized by permanent flexion contracture of one or more fingers, most commonly affecting the proximal interphalangeal joint of the fifth finger. It can occur as an isolated finding or as part of syndromic conditions including distal arthrogryposis and CACP syndrome.

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Pathophysiology

Fetal Akinesia

Reduced fetal movement during development leads to connective tissue accumulation and shortening around joints, resulting in fixed flexion deformities at birth. This is the fundamental pathomechanism across arthrogryposis types.

skeletal muscle fiber link

Downstream

Joint Contracture

Sarcomere Dysfunction

Pathogenic variants in sarcomeric proteins (TNNT3, TNNI2, TPM2, MYH3, ACTC1) impair muscle contraction/relaxation dynamics, reducing fetal limb motion and producing non-progressive congenital contractures.

skeletal muscle fiber link

sarcomere organization link muscle contraction link

Show evidence (1 reference)

PMID:21531865 SUPPORT

"A missense mutation in MYH3 (a gene coding for the heavy chain of myosin), causing an F437I amino acid substitution, was identified that segregated with distal arthrogryposis in this family."

Demonstrates MYH3 mutations causing distal arthrogryposis with contractures, linking sarcomeric protein dysfunction to congenital joint contractures.

PRG4/Lubricin Deficiency

Loss of PRG4 function abolishes surface lubrication and anti-adhesive properties of synovial and cartilage interfaces, provoking non-inflammatory arthropathy, synovial hyperplasia, and progressive joint stiffness. Camptodactyly is often the earliest manifestation in CACP syndrome.

type B synovial cell link chondrocyte link

extracellular matrix organization link

synovial membrane of joint link

Show evidence (1 reference)

PMID:29397575 SUPPORT

"CACP is caused by mutations in the proteoglycan 4 (PRG4) gene, which encodes a lubricating glycoprotein present in the synovial fluid and at the surface of articular cartilage."

Documents PRG4 as the causative gene for CACP syndrome, encoding lubricin present in synovial fluid and cartilage surfaces.

Flexor Tendon Abnormalities

Abnormalities or shortening in the flexor tendons can contribute to the inability to fully extend one or more fingers.

tendon link

Joint Contracture

Permanent soft tissue shortening around joints, leading to fixed flexion deformity. Results from fibroconnective remodeling of volar plate and tendon sheaths.

interphalangeal joint of manual digit link

⬡

Pathograph

Use the checkboxes to hide or show graph categories. Hover nodes for evidence and cross-linked metadata.

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Phenotypes

Limbs 2

Finger Flexion Contracture VERY_FREQUENT Flexion contracture of finger (HP:0012785)

Characterized by a permanent flexion deformity of one or more fingers.

Arachnodactyly OCCASIONAL Arachnodactyly (HP:0001166)

Long slender fingers; associated with FBN2 mutations in Beals syndrome.

Musculoskeletal 2

Camptodactyly VERY_FREQUENT Camptodactyly (HP:0012385)

Permanent flexion contracture of one or more fingers, most commonly the fifth finger at the proximal interphalangeal joint.

Show evidence (1 reference)

PMID:29397575 SUPPORT

"Camptodactyly was the first finding in 68% of patients (19 of the 28)"

Documents camptodactyly as the most common presenting feature in CACP syndrome patients.

Joint Stiffness FREQUENT Joint stiffness (HP:0001387)

Reduced range of motion in affected joints.

Show evidence (1 reference)

PMID:29397575 SUPPORT

"Large joint involvement was found in all of our patients and it included symmetrical noninflammatory arthropathy resulting in swelling, limited motion, and in flexion contractures."

Documents joint stiffness and limited motion as universal features in CACP patients.

Other 1

Distal Arthrogryposis OCCASIONAL

Present in syndromic forms; involves multiple distal joint contractures.

🧬

Genetic Associations

PRG4 (Pathogenic Variants)

Autosomal Recessive

Show evidence (1 reference)

PMID:29397575 SUPPORT

"The camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) is a rare autosomal recessive condition characterized by camptodactyly, noninflammatory arthropathy, coxa vara, and pericarditis. CACP is caused by mutations in the proteoglycan 4 (PRG4) gene"

Establishes PRG4 as the causative gene for CACP syndrome with autosomal recessive inheritance.

TNNT3 (Pathogenic Variants)

Autosomal Dominant

Show evidence (1 reference)

PMID:25337069 SUPPORT

"we report a 4-generation Indian family with 18 affected members presenting variable features of camptodactyly, brachydactyly, syndactyly, decreased flexion palmar creases, ulnar deviation of the hands, sandal gaps and club feet. We undertook exome sequencing of 3 distantly related affected..."

Demonstrates TNNT3 mutations causing distal arthrogryposis with camptodactyly in a large family.

TNNI2 (Pathogenic Variants)

Autosomal Dominant

TPM2 (Pathogenic Variants)

Autosomal Dominant

MYH3 (Pathogenic Variants)

Autosomal Dominant

Show evidence (1 reference)

PMID:21531865 PARTIAL

"Identification of an MYH3 mutation in this family with distal arthrogryposis type 1 broadens the phenotype associated with MYH3 mutations to include distal arthrogryposis types 1, 2A (Freeman-Sheldon syndrome), and 2B (Sheldon-Hall syndrome)."

Confirms MYH3 mutations cause multiple distal arthrogryposis subtypes including type 2A.

ACTC1 (Pathogenic Variants)

Autosomal Dominant

FBN2 (Pathogenic Variants)

Autosomal Dominant

ECEL1 (Pathogenic Variants)

Autosomal Recessive

💊

Treatments

Physical Therapy

Action: physical therapy MAXO:0000011

Exercises and splinting to improve range of motion and prevent further contracture. First-line conservative management for mild to moderate cases.

Show evidence (1 reference)

PMID:30897950 PARTIAL

"treatment of camptodactyly with operative or nonoperative measures reduces the degree of flexion contracture in most patients (from pretreatment averages of 20°-85° to posttreatment averages of 5°-37°)"

Systematic review demonstrates that conservative treatment reduces flexion contracture in camptodactyly patients.

Serial Splinting

Action: occupational therapy MAXO:0001351

Progressive splinting to gradually extend the affected joints over time.

Show evidence (1 reference)

PMID:3693837 SUPPORT

"Most of the patients could extend the proximal interphalangeal (PIP) joints within a few months by using the dynamic splint 24 hours a day. After almost full extension of the proximal interphalangeal joint was achieved, splinting for 8 hours a day produced good final results."

Documents effectiveness of dynamic splinting for camptodactyly treatment.

Surgical Release

Action: surgical procedure MAXO:0000004

Surgical intervention may be necessary for severe cases to release the tendons and improve finger extension. Options include tendon lengthening or volar plate release.

Show evidence (1 reference)

PMID:30897950 SUPPORT

"There was general agreement that surgery should be reserved for contracture >30° or failure to respond to conservative management. Surgery generally led to more complications compared with conservative management."

Systematic review confirms surgery is reserved for severe contractures over 30 degrees or when conservative treatment fails.

Orthotic Interventions

Action: occupational therapy MAXO:0001351

Use of orthotic devices to support and properly align affected fingers.

Genetic Counseling

Action: genetic counseling MAXO:0000079

Recommended for syndromic forms to assess inheritance patterns and recurrence risks.

{ }

Source YAML

click to show

name: Camptodactyly
creation_date: '2025-12-04T16:57:31Z'
updated_date: '2026-02-17T21:53:14Z'
category: Musculoskeletal Disorder
parents:
- Congenital Limb Malformation
- Joint Disorder
description: Camptodactyly is a congenital or acquired condition characterized
  by permanent flexion contracture of one or more fingers, most commonly
  affecting the proximal interphalangeal joint of the fifth finger. It can occur
  as an isolated finding or as part of syndromic conditions including distal
  arthrogryposis and CACP syndrome.
prevalence:
- population: General Population
  percentage: Rare
  notes: Estimated at less than 1% of the population; more common in certain
    syndromic contexts.
genetic:
- name: PRG4
  association: Pathogenic Variants
  inheritance:
  - name: Autosomal Recessive
  notes: Biallelic loss-of-function mutations cause CACP syndrome with early
    camptodactyly and noninflammatory arthropathy.
  evidence:
  - reference: PMID:29397575
    reference_title: "Genotype-phenotype investigation of 35 patients from 11 unrelated families with camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome."
    supports: SUPPORT
    snippet: "The camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP)
      is a rare autosomal recessive condition characterized by camptodactyly, noninflammatory
      arthropathy, coxa vara, and pericarditis. CACP is caused by mutations in the
      proteoglycan 4 (PRG4) gene"
    explanation: Establishes PRG4 as the causative gene for CACP syndrome with
      autosomal recessive inheritance.
- name: TNNT3
  association: Pathogenic Variants
  inheritance:
  - name: Autosomal Dominant
  notes: Variants in fast skeletal troponin T cause distal arthrogryposis with
    camptodactyly.
  evidence:
  - reference: PMID:25337069
    reference_title: "Exome Sequencing Identifies a Dominant TNNT3 Mutation in a Large Family with Distal Arthrogryposis."
    supports: SUPPORT
    snippet: "we report a 4-generation Indian family with 18 affected members presenting
      variable features of camptodactyly, brachydactyly, syndactyly, decreased flexion
      palmar creases, ulnar deviation of the hands, sandal gaps and club feet. We
      undertook exome sequencing of 3 distantly related affected individuals. Bioinformatics
      filtering revealed a known pathogenic missense mutation c.188G>A (p.Arg63His)
      in TNNT3"
    explanation: Demonstrates TNNT3 mutations causing distal arthrogryposis with
      camptodactyly in a large family.
- name: TNNI2
  association: Pathogenic Variants
  inheritance:
  - name: Autosomal Dominant
  notes: Fast skeletal troponin I variants cause distal arthrogryposis
    phenotypes.
- name: TPM2
  association: Pathogenic Variants
  inheritance:
  - name: Autosomal Dominant
  notes: Beta-tropomyosin variants cause distal arthrogryposis with
    contractures.
- name: MYH3
  association: Pathogenic Variants
  inheritance:
  - name: Autosomal Dominant
  notes: Embryonic myosin heavy chain variants cause distal arthrogryposis type
    2A.
  evidence:
  - reference: PMID:21531865
    reference_title: "Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1."
    supports: PARTIAL
    snippet: "Identification of an MYH3 mutation in this family with distal arthrogryposis
      type 1 broadens the phenotype associated with MYH3 mutations to include distal
      arthrogryposis types 1, 2A (Freeman-Sheldon syndrome), and 2B (Sheldon-Hall
      syndrome)."
    explanation: Confirms MYH3 mutations cause multiple distal arthrogryposis
      subtypes including type 2A.
- name: ACTC1
  association: Pathogenic Variants
  inheritance:
  - name: Autosomal Dominant
  notes: Cardiac alpha-actin missense variants can cause distal arthrogryposis
    with congenital heart defects.
- name: FBN2
  association: Pathogenic Variants
  inheritance:
  - name: Autosomal Dominant
  notes: Missense variants disrupting disulfide bonds cause congenital
    contractural arachnodactyly (Beals syndrome) with camptodactyly.
- name: ECEL1
  association: Pathogenic Variants
  inheritance:
  - name: Autosomal Recessive
  notes: Compound heterozygous variants cause distal arthrogryposis type 5D with
    joint dysfunction.
pathophysiology:
- name: Fetal Akinesia
  description: Reduced fetal movement during development leads to connective
    tissue accumulation and shortening around joints, resulting in fixed flexion
    deformities at birth. This is the fundamental pathomechanism across
    arthrogryposis types.
  cell_types:
  - preferred_term: skeletal muscle fiber
    term:
      id: CL:0008002
      label: skeletal muscle fiber
  downstream:
  - target: Joint Contracture
- name: Sarcomere Dysfunction
  description: Pathogenic variants in sarcomeric proteins (TNNT3, TNNI2, TPM2,
    MYH3, ACTC1) impair muscle contraction/relaxation dynamics, reducing fetal
    limb motion and producing non-progressive congenital contractures.
  cell_types:
  - preferred_term: skeletal muscle fiber
    term:
      id: CL:0008002
      label: skeletal muscle fiber
  biological_processes:
  - preferred_term: sarcomere organization
    term:
      id: GO:0045214
      label: sarcomere organization
  - preferred_term: muscle contraction
    term:
      id: GO:0006936
      label: muscle contraction
  evidence:
  - reference: PMID:21531865
    reference_title: "Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1."
    supports: SUPPORT
    snippet: "A missense mutation in MYH3 (a gene coding for the heavy chain of myosin),
      causing an F437I amino acid substitution, was identified that segregated with
      distal arthrogryposis in this family."
    explanation: Demonstrates MYH3 mutations causing distal arthrogryposis with
      contractures, linking sarcomeric protein dysfunction to congenital joint
      contractures.
- name: PRG4/Lubricin Deficiency
  description: Loss of PRG4 function abolishes surface lubrication and
    anti-adhesive properties of synovial and cartilage interfaces, provoking
    non-inflammatory arthropathy, synovial hyperplasia, and progressive joint
    stiffness. Camptodactyly is often the earliest manifestation in CACP
    syndrome.
  gene:
    preferred_term: PRG4
    description: Encodes lubricin, a secreted mucinous glycoprotein that
      provides boundary lubrication and anti-adhesive properties at joint
      surfaces.
    term:
      id: hgnc:9364
      label: PRG4
  cell_types:
  - preferred_term: type B synovial cell
    term:
      id: CL:0002301
      label: type B synovial cell
  - preferred_term: chondrocyte
    term:
      id: CL:0000138
      label: chondrocyte
  locations:
  - preferred_term: synovial membrane of joint
    term:
      id: UBERON:0002018
      label: synovial membrane of synovial joint
  biological_processes:
  - preferred_term: extracellular matrix organization
    term:
      id: GO:0030198
      label: extracellular matrix organization
  evidence:
  - reference: PMID:29397575
    reference_title: "Genotype-phenotype investigation of 35 patients from 11 unrelated families with camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome."
    supports: SUPPORT
    snippet: "CACP is caused by mutations in the proteoglycan 4 (PRG4) gene, which
      encodes a lubricating glycoprotein present in the synovial fluid and at the
      surface of articular cartilage."
    explanation: Documents PRG4 as the causative gene for CACP syndrome,
      encoding lubricin present in synovial fluid and cartilage surfaces.
- name: Flexor Tendon Abnormalities
  description: Abnormalities or shortening in the flexor tendons can contribute
    to the inability to fully extend one or more fingers.
  locations:
  - preferred_term: tendon
    term:
      id: UBERON:0000043
      label: tendon
- name: Joint Contracture
  description: Permanent soft tissue shortening around joints, leading to fixed
    flexion deformity. Results from fibroconnective remodeling of volar plate
    and tendon sheaths.
  locations:
  - preferred_term: interphalangeal joint of manual digit
    term:
      id: UBERON:0007722
      label: interphalangeal joint of manus
phenotypes:
- category: Musculoskeletal
  name: Camptodactyly
  frequency: VERY_FREQUENT
  diagnostic: true
  notes: Permanent flexion contracture of one or more fingers, most commonly the
    fifth finger at the proximal interphalangeal joint.
  phenotype_term:
    preferred_term: Camptodactyly
    term:
      id: HP:0012385
      label: Camptodactyly
  evidence:
  - reference: PMID:29397575
    reference_title: "Genotype-phenotype investigation of 35 patients from 11 unrelated families with camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome."
    supports: SUPPORT
    snippet: "Camptodactyly was the first finding in 68% of patients (19 of the 28)"
    explanation: Documents camptodactyly as the most common presenting feature
      in CACP syndrome patients.
- category: Musculoskeletal
  name: Finger Flexion Contracture
  frequency: VERY_FREQUENT
  diagnostic: true
  notes: Characterized by a permanent flexion deformity of one or more fingers.
  phenotype_term:
    preferred_term: Finger Flexion Contracture
    term:
      id: HP:0012785
      label: Flexion contracture of finger
- category: Musculoskeletal
  name: Joint Stiffness
  frequency: FREQUENT
  notes: Reduced range of motion in affected joints.
  phenotype_term:
    preferred_term: Joint stiffness
    term:
      id: HP:0001387
      label: Joint stiffness
  evidence:
  - reference: PMID:29397575
    reference_title: "Genotype-phenotype investigation of 35 patients from 11 unrelated families with camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome."
    supports: SUPPORT
    snippet: "Large joint involvement was found in all of our patients and it included
      symmetrical noninflammatory arthropathy resulting in swelling, limited motion,
      and in flexion contractures."
    explanation: Documents joint stiffness and limited motion as universal
      features in CACP patients.
- category: Musculoskeletal
  name: Distal Arthrogryposis
  frequency: OCCASIONAL
  notes: Present in syndromic forms; involves multiple distal joint
    contractures.
- category: Musculoskeletal
  name: Arachnodactyly
  frequency: OCCASIONAL
  notes: Long slender fingers; associated with FBN2 mutations in Beals syndrome.
  phenotype_term:
    preferred_term: Arachnodactyly
    term:
      id: HP:0001166
      label: Arachnodactyly
treatments:
- name: Physical Therapy
  description: Exercises and splinting to improve range of motion and prevent
    further contracture. First-line conservative management for mild to moderate
    cases.
  treatment_term:
    preferred_term: physical therapy
    term:
      id: MAXO:0000011
      label: physical therapy
  evidence:
  - reference: PMID:30897950
    reference_title: "Surgery and Conservative Management of Camptodactyly in Pediatric Patients: A Systematic Review."
    supports: PARTIAL
    snippet: "treatment of camptodactyly with operative or nonoperative measures reduces
      the degree of flexion contracture in most patients (from pretreatment averages
      of 20°-85° to posttreatment averages of 5°-37°)"
    explanation: Systematic review demonstrates that conservative treatment
      reduces flexion contracture in camptodactyly patients.
- name: Serial Splinting
  description: Progressive splinting to gradually extend the affected joints
    over time.
  treatment_term:
    preferred_term: occupational therapy
    term:
      id: MAXO:0001351
      label: occupational therapy
  evidence:
  - reference: PMID:3693837
    reference_title: "Nonoperative treatment of camptodactyly."
    supports: SUPPORT
    snippet: "Most of the patients could extend the proximal interphalangeal (PIP)
      joints within a few months by using the dynamic splint 24 hours a day. After
      almost full extension of the proximal interphalangeal joint was achieved, splinting
      for 8 hours a day produced good final results."
    explanation: Documents effectiveness of dynamic splinting for camptodactyly
      treatment.
- name: Surgical Release
  description: Surgical intervention may be necessary for severe cases to
    release the tendons and improve finger extension. Options include tendon
    lengthening or volar plate release.
  treatment_term:
    preferred_term: surgical procedure
    term:
      id: MAXO:0000004
      label: surgical procedure
  evidence:
  - reference: PMID:30897950
    reference_title: "Surgery and Conservative Management of Camptodactyly in Pediatric Patients: A Systematic Review."
    supports: SUPPORT
    snippet: "There was general agreement that surgery should be reserved for contracture
      >30° or failure to respond to conservative management. Surgery generally led
      to more complications compared with conservative management."
    explanation: Systematic review confirms surgery is reserved for severe
      contractures over 30 degrees or when conservative treatment fails.
- name: Orthotic Interventions
  description: Use of orthotic devices to support and properly align affected
    fingers.
  treatment_term:
    preferred_term: occupational therapy
    term:
      id: MAXO:0001351
      label: occupational therapy
- name: Genetic Counseling
  description: Recommended for syndromic forms to assess inheritance patterns
    and recurrence risks.
  treatment_term:
    preferred_term: genetic counseling
    term:
      id: MAXO:0000079
      label: genetic counseling
notes: Camptodactyly is a condition primarily affecting the hand, marked by a
  permanent flexion deformity, most commonly seen in the little finger. While it
  can be present at birth, it often becomes more pronounced during growth
  periods. The condition can be isolated or part of syndromic conditions
  including distal arthrogryposis (sarcomeric gene variants), CACP syndrome
  (PRG4 mutations), or congenital contractural arachnodactyly (FBN2 mutations).
  The fundamental pathomechanism involves reduced fetal movement leading to
  connective tissue remodeling and joint contracture.
disease_term:
  preferred_term: camptodactyly of fingers
  term:
    id: MONDO:0007250
    label: camptodactyly of fingers
references:
- reference: DOI:10.1016/j.xhgg.2023.100213
  title: Variants in ACTC1 underlie distal arthrogryposis accompanied by
    congenital heart defects
  findings: []
- reference: DOI:10.1186/s12891-025-09069-x
  title: 'Juvenile idiopathic arthritis or skeletal dysplasia: first case report of
    camptodactyly-arthropathy-coxa vara-pericarditis from Iran'
  findings: []
- reference: DOI:10.1186/s12969-023-00793-z
  title: 'A novel mutation in the proteoglycan 4 gene causing CACP syndrome: two sisters
    report'
  findings: []
- reference: DOI:10.3389/fgene.2023.1035887
  title: 'Case report: Identification of novel fibrillin-2 variants impacting disulfide
    bond and causing congenital contractural arachnodactyly'
  findings: []
- reference: DOI:10.3389/fneur.2024.1343025
  title: 'A novel compound heterozygous variant of ECEL1 induced joint dysfunction
    and cartilage degradation: a case report and literature review'
  findings: []
- reference: DOI:10.3390/children11070861
  title: Heterogenic Genetic Background of Distal Arthrogryposis—Review of the
    Literature and Case Report
  findings: []

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