Ehlers-Danlos syndrome

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• 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)

Review Date: 12/11/2006
Reviewed By: Brian Kirmse, MD, Mount Sinai School of Medicine, Department of Human Genetics, New York, NY. Review provided by VeriMed Healthcare Network.