Ehlers-Danlos syndrome hypermobility type

Ehlers-Danlos syndrome, type 3

Overview

Type of disease: Rare conditions

Ehlers-Danlos syndrome (EDS) is a rare tissue disorder that has six specific types. EDS affects a person’s connective tissue, which separates, connects and supports different organs in the body. People with EDS usually cannot make enough normal collagen, a connective tissue protein.

Ehlers-Danlos syndrome hypermobility type (EDS III, EDS type 3) is considered the most common, but least serious type of EDS; however, complications may occur.

The most common sign of EDS III is an unusually large range of joint movement (hypermobility). Symptoms include loose joints, chronic joint pain, and unstable joints (hyperlaxity). The bones in the affected joints tend to fully or partially dislocate, or “pop out of place”. This may occur after minor injuries or on its own. Certain joints (shoulder, knee, jaw) are more likely to dislocate/subluxate, but all joints can be affected. Other symptoms include soft velvety skin, abnormally stretchy skin (hyperextensible), degenerative joint disease, easy bruising, and blood disorders. EDS III commonly affects the stomach and intestines, which may lead to stomach or bowel issues. Heart and blood vessel complications may also occur.

There is no cure for EDS III; it is a lifelong condition that requires close monitoring. Treatments include physical therapy and the use of orthopedic instruments such as braces. Onset can be at any age but it is hard to diagnose in children.

EDS III is usually passed through families in an autosomal dominant manner, meaning that a person only needs to inherit one copy of the defective gene in order to develop the disorder. In most cases, the genetic cause is unknown. If you or your child has been diagnosed with EDS III, talk to your doctor about the most current treatment options. A genetic counselor can be helpful to discuss inheritance and risks to other family members. Support groups are also available for more resources and information.

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