Medical Genetics

Ehlers-Danlos syndrome

A group of heritable connective-tissue disorders with variable joint, skin and tissue fragility; hypermobile EDS and hypermobility spectrum disorder are usually clinical diagnoses, while vascular EDS is rare and can cause arterial, bowel or uterine rupture.

Definition

Ehlers-Danlos syndromes are a heterogeneous group of heritable connective-tissue disorders with variable combinations of joint hypermobility, skin hyperextensibility and tissue fragility. Different subtypes have different genes, diagnostic pathways and risks.

First principles

This is a heterogeneous group, not one phenotype

Ehlers-Danlos syndromes comprise multiple heritable connective-tissue disorders with different molecular causes, clinical patterns and risks. Joint hypermobility, skin changes and tissue fragility overlap across types, but the severity and complications cannot be inferred from hypermobility alone.

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