GTR Home > Conditions/Phenotypes > Ehlers-Danlos syndrome, classic type

Summary

Excerpted from the GeneReview: Classic Ehlers-Danlos Syndrome
Classic Ehlers-Danlos syndrome (cEDS) is a connective tissue disorder characterized by skin hyperextensibility, atrophic scarring, and generalized joint hypermobility (GJH). The skin is soft and doughy to the touch, and hyperextensible, extending easily and snapping back after release (unlike lax, redundant skin, as in cutis laxa). The skin is fragile, as manifested by splitting of the dermis following relatively minor trauma, especially over pressure points (knees, elbows) and areas prone to trauma (shins, forehead, chin). Wound healing is poor, and stretching of scars after apparently successful primary wound healing is characteristic. Complications of joint hypermobility, such as dislocations of the shoulder, patella, digits, hip, radius, and clavicle, usually resolve spontaneously or are easily managed by the affected individual. Other features include hypotonia with delayed motor development, fatigue and muscle cramps, and easy bruising. Mitral valve prolapse can occur infrequently, but tends to be of little clinical consequence. Aortic root dilatation has been reported, appears to be more common in young individuals, and rarely progresses.

Genes See tests for all associated and related genes

  • Also known as: EDSARTH1, EDSC, OI1, OI2, OI3, OI4, COL1A1
    Summary: collagen type I alpha 1 chain

  • Also known as: EDSC, EDSCL1, COL5A1
    Summary: collagen type V alpha 1 chain

  • Also known as: EDSC, EDSCL2, COL5A2
    Summary: collagen type V alpha 2 chain

Clinical features

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