Hypermobility Signs

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

1. See Also
   1. Generalized Joint Hypermobility Diagnosis (Beighton Hypermobility Score, Five Point Hypermobility Questionnaire)
   2. Marfan Syndrome
   3. Ehlers-Danlos Syndrome (EDS)
2. 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
3. Pathophysiology
   1. Many different conditions demonstrating Hypermobility
   2. Involves tendon and muscle laxity and decreased proprioception
   3. Disordered connective tissue structure
4. 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
5. 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
6. 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
7. 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)
8. Differential Diagnosis
   1. Chromosomal Disorders (associated with dysmorphic findings, Hypogonadism)
      1. Down Syndrome
      2. Aneuploidy
   2. Hereditary Cutis Laxa
      1. Loose, inelastic skin
   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. Skeletal Dysplasia
      1. Osteogenesis Imperfecta
      2. Larsen Syndrome
   6. Other congenital syndromes
      1. Fragile X Syndrome
9. Complications
   1. Pes Planus
   2. Hip dysplasia
   3. Dislocated Patella
10. Resources
    1. Hypermobility Disorders (Hypermobility Syndromes Associations)
       1. https://www.hypermobility.org/hypermobility-disorders-an-update-for-clinicians
11. References
    1. Yew (2021) Am Fam Physician 103(8): 481-92 [PubMed]