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)