Rheumatology Book

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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]

Hypermobility, Joint (C0086437)

Concepts Sign or Symptom (T184)
MSH D007593
SnomedCT 298181000, 298203008
English Hypermobilities, Joint, Joint Hypermobilities, Joint Hypermobility, Joint Laxities, Joint Laxity, Laxities, Joint, Laxity, Joint, Joint hypermobility, Range joint movement increase, joint hypermobility, hypermobility joint, hypermobility joints, joint laxity, Hypermobility of joints, Joints--Hypermobility, Hypermobility of joint, Range of joint movement increased, Joint laxity, Joint laxity (finding), Range of joint movement increased (finding), Hypermobility, Joint
Czech hypermobilita kloubní, Uvolnění kloubu
Portuguese Hipermobilidade Articular, Frouxidão da articulação, Frouxidão Articular
Spanish Hipermobilidad de la Articulación, Laxitud articular, amplitud de movimiento articular, aumentada (hallazgo), amplitud de movimiento articular, aumentada, laxitud articular (hallazgo), laxitud articular, Laxitud de la Articulación
French Laxité articulaire, Laxité de l'articulation
German Hypermobilität, Gelenk-, Gelenklaxitaet, Laxität, Band-
Dutch gewrichtsslapte, Hypermobiliteit, gewrichts-, Laxiteit, gewrichts-
Japanese 関節弛緩, カンセツシカン
Hungarian Ízület lazaság
Norwegian Løst ledd, Hypermobile ledd, Hypermobilt ledd, Løse ledd
Italian Ipermobilità articolare, Lassità articolare
Sources
Derived from the NIH UMLS (Unified Medical Language System)


Hypermobility syndrome (C0152093)

Concepts Disease or Syndrome (T047)
ICD9 728.5
ICD10 M35.7
SnomedCT 156723005, 85551004
English Benign joint hypermobility, hypermobility syndrome, hypermobility syndrome (diagnosis), benign hypermobility joint, hypermobility syndromes, benign joint hypermobility, Hypermobility Syndrome, Benign joint hypermobility (finding), Hypermobility syndrome, Familial ligamentous laxity, Hypermobility syndrome (disorder), familial; ligamentous laxity, hypermobility; syndrome, syndrome; hypermobility
Italian Sindrome di iperlassità
Japanese 過剰可動性症候群, カジョウカドウセイショウコウグン
German Hypermobilitaets-Syndrom, Hypermobilitaetssyndrom
Czech Hypermobilní syndrom
Korean 과운동성 증후군
Hungarian Hypermobilitas-syndroma
Dutch familiaal; slappe banden, hypermobiliteit; syndroom, syndroom; hypermobiliteit, Hypermobiliteitssyndroom, hypermobiliteitssyndroom
Spanish síndrome de hipermovilidad (trastorno), síndrome de hipermovilidad, Síndrome de hipermovilidad
Portuguese Síndrome de hipermobilidade
French Hyperlaxité articulaire
Sources
Derived from the NIH UMLS (Unified Medical Language System)


Extensible joints (C1844820)

Concepts Finding (T033)
English Extensible joints
Sources
Derived from the NIH UMLS (Unified Medical Language System)


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