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Ehlers-Danlos syndrome
Symptoms & Signs
Symptoms of EDS include: - Double-jointedness
- Easily damaged, bruised, and stretchy skin
- Easy scarring and poor wound healing
- Flat feet
- Increased joint mobility, joints popping, early arthritis
- Joint dislocation
- Joint pain
- Premature rupture of membranes during pregnancy
- Very soft and velvety skin
- Vision problems
Diagnosis & Tests
Examination by the health care provider may show: - Deformed surface of the eye (cornea)
- Excess joint laxity and joint hypermobility
- Mitral valve prolapse
- Periodontitis
- Rupture of intestines, uterus, or eyeball (seen only in vascular EDS, which is rare)
- Signs of platelet aggregation failure (platelets do not clump together properly)
- Soft, thin, or very stretchy (hyperextensible) skin
Tests performed to diagnose EDS include: - Collagen typing (performed on a skin biopsy sample)
- Collagen gene mutation testing
- Echocardiogram (heart ultrasound)
- Lysyl hydroxylase or oxidase activity
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Review Date : 12/3/2008
Reviewed By : David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washington School of Medicine; Jatin M. Vyas, MD, PhD, Assistant Professor in Medicine, Harvard Medical School, Assistant in Medicine, Division of Infectious Disease, Department of Medicine, Massachusetts General Hospital. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
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