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Along this line, Cbl shortcoming can cause malformation of the myelin sheath, which may mirror the symptoms of multiple sclerosis

Type of EDS: Hypermobile EDS (hEDS) Distinguishing Features: Generalized joint hypermobility Joint instability Chronic pain Type of EDS: Classical EDS (cEDS) Distinguishing Features: Skin fragility with extensive atrophic scarring Very stretchy skin with a velvety or doughy texture Type of EDS: Vascular EDS (vEDS) Distinguishing Features: Arterial fragility with aneurysm/dissection/rupture Organ fragility and rupture Extensive bruising Pneumothorax (collapsed lung) Type of EDS: Periodontal EDS (pEDS) Distinguishing Features: Severe, early-onset gum disease with tooth loss Pretibial plaques (discoloration of shins) Type of EDS: Kyphoscoliotic EDS (kEDS) Distinguishing Features: Congenital/early-onset kyphoscoliosis Congenital hypotonia (low muscle tone) Type of EDS: Spondylodysplastic EDS (spEDS) Distinguishing Features: Short stature Muscle weakness Limb bowing Craniofacial features Type of EDS: Brittle cornea syndrome (BCS) Distinguishing Features: Severe problems with the cornea of the eye Hearing loss Type of EDS: Arthrochalasia EDS (aEDS) Distinguishing Features: Severe joint hypermobility Congenital bilateral hip dislocation Type of EDS: Musculocontractural EDS (mcEDS) Distinguishing Features: Congenital multiple contractures Craniofacial features Type of EDS: Classical-like EDS (clEDS) Distinguishing Features: Stretchy, velvety skin without atrophic scarring Foot deformities Leg swelling Type of EDS: Dermatosparaxis EDS (dEDS) Distinguishing Features: Severe skin fragility Craniofacial features Loose, excess skin Severe bruising Short limbs Type of EDS: Myopathic EDS (mEDS) Distinguishing Features: Congenital hypotonia (low muscle tone at birth) Proximal joint contractures Type of EDS: Cardiac-valvular EDS (cvEDS) Distinguishing Features: Severe heart valve insufficiency How is joint hypermobility assessed

doi: 10.3389/fgene.2018.00362 133 GaoS

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