Ehlers-Danlos syndrome is a group of inherited disorders marked by extremely loose joints, hyperelastic skin that bruises easily, and easily damaged blood vessels.

There are six major types of Ehlers-Danlos syndrome (EDS). A variety of different gene problems cause problems with collagen, the material that provides strength and structure to skin and bone tissue, blood vessels, and internal organs. (The syndrome sometimes involves rupture of internal organs.)

Family history is a risk factor in some cases.

• Joint dislocation
• Joint pain
• Increased joint mobility, joints popping, early arthritis
• Double-jointedness
• Flat feet
• Easily damaged, bruised, and stretchy skin
• Very soft and velvety skin
• Easy scarring and poor wound healing
• Premature rupture of membranes at birth
• Vision problems

Examination by the health care provider may show:

• Excess joint laxity and joint hypermobility
• Soft, thin, or hyperextensible skin
• Mitral valve prolapse
• Periodontitis
• Signs of platelet aggregation failure (platelets do not clump together properly)
• Rupture of intestines, uterus, or eyeball (seen only in vascular EDS, which is rare)
• Deformed cornea

Tests:

• Collagen typing (performed on a skin biopsy sample)
• Collagen gene mutation testing
• Lysyl hydroxylase or oxidase activity
• Echocardiogram (heart ultrasound)