The Ehlers-Danlos syndrome (EDS) are a group of connective tissue disorders that mostly affect the skin, joints and blood vessels. They are inherited disorders and can be characterized by joint hypermobility (sometimes referred to as double-jointedness) and skin differences.
Individuals who have EDS may experience symptoms such as overly flexible joints that can dislocate, elastic translucent skin which may bruise easily and poor wound healing. Aside from common skin hyperextensibility and generalized joint hypermobility, EDS can also cause hernias and complications of joint hypermobility including sprains, flat feet, and joint pain. EDS has recently been reclassified as part of a spectrum known as Hypermobility Spectrum Disorders (HSD).
EDS is diagnosed based upon the clinical findings of the patient and the family history. For some types of EDS, a skin biopsy is performed to determine the chemical makeup of the connective tissue which can help to suggest the diagnosis. EDS can be also be diagnosed by genetic testing although the genetic cause of EDS and HSD remain unknown.
There are currently six major defined types of EDS which are classified according to the signs and symptoms of the patient.
More rare types of EDS include:
- brittle cornea
The Comprehensive Ehlers Danlos Syndrome and Hypermobility Spectrum Center at Penn Medicine and CHOP includes a team of physicians, genetic counselors, nurse practitioners, and physical and occupational therapists with experience in diagnosing and managing the various forms of EDS and HSDs. If you have recently been diagnosed or need to an evaluation, contact us for an appointment.