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reference materials

Ehlers-Danlos Syndrome

key information

source: Merck Manual

year: 2017

authors: Frank Pessler


Ehlers-Danlos syndrome is a hereditary collagen disorder characterized by articular hypermobility, dermal hyperelasticity, and widespread tissue fragility. Diagnosis is clinical. Treatment is supportive.

Inheritance is usually autosomal dominant, but Ehlers-Danlos syndrome is heterogeneous. Different gene mutations affect the amount, structure, or assembly of different collagens. Mutations can exist in the genes that encode collagens (eg, type I, III, or V) or collagen-modifying enzymes (eg, lysyl hydroxylase, a collagen-cleaving protease).

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