Ehlers-Danlos syndrome type I (severe form of classic Ehlers-Danlos)

Introduction

Severe form.

Pathology

• connective tissue disorder

Genetics

• associated with defects in COL1A1
• associated with defects in COL5A1 & COL5A2

Clinical manifestations

• hyperextensible skin
• atrophic cutaneous scars due to tissue fragility
• joint hyperlaxity

More general terms

• Ehlers-Danlos syndrome; cutis elastica (EDS)

Additional terms

• collagen 5 alpha-1 (COL5A1)

Database

• OMIM: https://mirror.omim.org/entry/130000
• OMIM: https://mirror.omim.org/entry/120215