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Hypermobility Signs

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Hypermobility Signs, Joint Hyperextensibility, Joint Laxity, Hypermobility Syndrome, Hypermobility, Hypermobility Spectrum Disorder

  • See Also
  1. Generalized Joint Hypermobility Diagnosis (Beighton Hypermobility Score, Five Point Hypermobility Questionnaire)
  2. Marfan Syndrome
  3. Ehlers-Danlos Syndrome (EDS)
  • Epidemiology
  1. Prevalence Hypermobility Syndrome: 0.13 to 0.19%
    1. Up to 4-11% children demonstrate Hypermobility
    2. Up to 3-4% of adults report Hypermobility and widespread pain
  • Pathophysiology
  1. Many different conditions demonstrating Hypermobility
  2. Involves tendon and Muscle laxity and decreased proprioception
  3. Disordered connective tissue structure
  • History
  • Indications for Screening
  1. Joint instability (current or past history)
    1. Joint Dislocations
    2. Double Jointedness
  2. Extra-articular findings
    1. Skin findings
      1. Velvet-like skin softness
      2. Atrophic scars
      3. Skin hyperextensible
      4. Striae
    2. Genitourinary or Gastrointestinal Findings
      1. Recurrent Hernia
      2. Pelvic Organ Prolapse
      3. Rectal Prolapse
    3. Musculoskeletal findings
      1. Family History of Ehlers-Danlos Syndrome (EDS)
      2. Marfan Syndrome body habitus
      3. Chronic Musculoskeletal Pain
  • Signs
  • Joint Hyperextension
  1. See Beighton Hypermobility Score
  2. Thumb hyperextension onto Forearm
  3. Fingers hyperextend to be parallel to Forearm (Metacarpal hyperextension)
  4. Elbow hyperextension (<0 degrees)
  5. Knee hyperextension (<0 degrees)
  6. Ankle dorsiflexion >45 degrees (normally up to 20 degrees)
  7. Spine hyperextension
  8. Forward flexion with knees straight, palms on floor
  • Diagnosis
  1. See Generalized Joint Hypermobility Diagnosis (Beighton Hypermobility Score, Five Point Hypermobility Questionnaire)
  2. Positive Beighton Hypermobility Score (with or without Five Point Hypermobility Questionnaire)
    1. Evaluate for Hypermobile Ehlers-Danlos Syndrome (EDS)
    2. Obtain Echocardiogram
    3. Consider other Hypermobility Syndromes or EDS types
  • Causes
  • Hypermobility Syndromes
  1. Marfan Syndrome
    1. Related conditions include MASS Phenotype (Mitral Valve Prolapse), Beals Syndrome
  2. Ehlers-Danlos Syndrome (EDS)
    1. Most commonly Hypermobile Ehlers-Danlos Syndrome (80-90% of cases)
  3. Hypermobility Spectrum Disorders
    1. Does not meet criteria for Ehlers-Danlos Syndrome (EDS)
    2. May be generalized, peripheral (hands or feet) or limited to single joint or body part
    3. May be asymptomatic
    4. Includes Benign Hypermobility Syndrome (an old diagnosis that has been deprecated)
  • Differential Diagnosis
  1. Chromosomal Disorders (associated with dysmorphic findings, Hypogonadism)
    1. Down Syndrome
    2. Aneuploidy
  2. Hereditary Cutis Laxa
    1. Skin hyperlaxity without joint hyperlaxity
    2. Loose, redundant, inelastic skin associated with premature aging
    3. Skin is slow to return to prior form after distention
  3. Hereditary Myopathy (e.g. Bethlem)
    1. Hypotonia
    2. Weakness
    3. Joint Laxity
  4. Loeys-Dietz Syndrome
    1. Aortic aneurysm
    2. Cleft Palate
    3. Bifid uvula
    4. Hypertelorism
    5. Hypotonia
  5. Larsen Syndrome
    1. Rare, hereditary Connective Tissue Disorder
      1. Mutation in cytoskeletal Protein filamin B
    2. Large joint dislocations
    3. Round face with saddle nose and widely spaced eyes
    4. Cleft Palate
    5. Clubfoot
    6. Short Stature
    7. Spinal abnormalities
  6. Osteogenesis Imperfecta
    1. Blue Sclera
    2. Hearing Loss
    3. Joint and skin hyperlaxity
    4. Short Stature
    5. Presents with recurrent Fractures and bone deformities
  7. Other congenital syndromes
    1. Fragile X Syndrome
  8. References
    1. Jana (2024) Am Fam Physician 110(2): 195-6
  • Complications
  1. Pes Planus
  2. Hip dysplasia
  3. Dislocated Patella
  • Resources
  1. Hypermobility Disorders (Hypermobility Syndromes Associations)
    1. https://www.hypermobility.org/hypermobility-disorders-an-update-for-clinicians
  • References
  1. Yew (2021) Am Fam Physician 103(8): 481-92 [PubMed]