pediatrics
Ehlers Danlos Syndromes
Introduction
Ehlers-Danlos syndromes are hereditary collagen disorders characterized by joint hypermobility, dermal hyperelasticity, and widespread tissue fragility. Diagnosis is clinical. Treatment is supportive. Inheritance is usually Autosomal Dominant , but Ehlers-Danlos syndromes are heterogeneous. Different gene mutations affect the amount, structure, or assembly of different collagens. Mutations can exist in the genes that encode different types of collagen (eg, type I, III, or V) or collagen-modifying enzymes (eg, lysyl hydroxylase, a collagen-cleaving protease). There are 6 major types: Hypermobile Classic Vascular Kyphoscoliosis Arthrochalasia Dermatosparaxis Hypermobile, classic, and vascular types are the most common. There are also 7 rare types. 