II. Epidemiology
- Prevalence Hypermobility Syndrome: 0.13 to 0.19%
- Up to 4-11% children demonstrate Hypermobility
- Up to 3-4% of adults report Hypermobility and widespread pain
III. Pathophysiology
- Many different conditions demonstrating Hypermobility
- Involves tendon and Muscle laxity and decreased proprioception
- Disordered connective tissue structure
IV. History: Indications for Screening
- Joint instability (current or past history)
- Joint Dislocations
- Double Jointedness
- Extra-articular findings
- Skin findings
- Velvet-like skin softness
- Atrophic scars
- Skin hyperextensible
- Striae
- Genitourinary or Gastrointestinal Findings
- Musculoskeletal findings
- Family History of Ehlers-Danlos Syndrome (EDS)
- Marfan Syndrome body habitus
- Chronic Musculoskeletal Pain
- Skin findings
V. Signs: Joint Hyperextension
- See Beighton Hypermobility Score
- Thumb hyperextension onto Forearm
- Fingers hyperextend to be parallel to Forearm (Metacarpal hyperextension)
- Elbow hyperextension (<0 degrees)
- Knee hyperextension (<0 degrees)
- Ankle dorsiflexion >45 degrees (normally up to 20 degrees)
- Spine hyperextension
- Forward flexion with knees straight, palms on floor
VI. Diagnosis
- See Generalized Joint Hypermobility Diagnosis (Beighton Hypermobility Score, Five Point Hypermobility Questionnaire)
- Positive Beighton Hypermobility Score (with or without Five Point Hypermobility Questionnaire)
- Evaluate for Hypermobile Ehlers-Danlos Syndrome (EDS)
- Obtain Echocardiogram
- Consider other Hypermobility Syndromes or EDS types
VII. Causes: Hypermobility Syndromes
-
Marfan Syndrome
- Related conditions include MASS Phenotype (Mitral Valve Prolapse), Beals Syndrome
-
Ehlers-Danlos Syndrome (EDS)
- Most commonly Hypermobile Ehlers-Danlos Syndrome (80-90% of cases)
- Hypermobility Spectrum Disorders
- Does not meet criteria for Ehlers-Danlos Syndrome (EDS)
- May be generalized, peripheral (hands or feet) or limited to single joint or body part
- May be asymptomatic
- Includes Benign Hypermobility Syndrome (an old diagnosis that has been deprecated)
VIII. Differential Diagnosis
- Chromosomal Disorders (associated with dysmorphic findings, Hypogonadism)
- Hereditary Cutis Laxa
- Skin hyperlaxity without joint hyperlaxity
- Loose, redundant, inelastic skin associated with premature aging
- Skin is slow to return to prior form after distention
- Hereditary Myopathy (e.g. Bethlem)
- Hypotonia
- Weakness
- Joint Laxity
- Loeys-Dietz Syndrome
- Aortic aneurysm
- Cleft Palate
- Bifid uvula
- Hypertelorism
- Hypotonia
- Larsen Syndrome
- Rare, hereditary Connective Tissue Disorder
- Mutation in cytoskeletal Protein filamin B
- Large joint dislocations
- Round face with saddle nose and widely spaced eyes
- Cleft Palate
- Clubfoot
- Short Stature
- Spinal abnormalities
- Rare, hereditary Connective Tissue Disorder
- Osteogenesis Imperfecta
- Blue Sclera
- Hearing Loss
- Joint and skin hyperlaxity
- Short Stature
- Presents with recurrent Fractures and bone deformities
- Other congenital syndromes
- References
- Jana (2024) Am Fam Physician 110(2): 195-6
IX. Complications
- Pes Planus
- Hip dysplasia
- Dislocated Patella
X. Resources
- Hypermobility Disorders (Hypermobility Syndromes Associations)
XI. References
Images: Related links to external sites (from Bing)
Related Studies
| 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 |
Ontology: 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, ｶｼﾞｮｳｶﾄﾞｳｾｲｼｮｳｺｳｸﾞﾝ |
| 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 |
Ontology: Extensible joints (C1844820)
| Concepts | Finding (T033) |
| English | Extensible joints |
