> Ehlers-Danlos Syndrome

• Symptoms & Characteristics
• Treatment
• How Common Is It?
• Genetics & Inheritance
• Genetic Testing
• Support & More Information
• Alternative Names

Last Reviewed May 29, 2009

Symptoms & Characteristics

Ehlers-Danlos syndrome (EDS) is a group of genetic conditions that weaken connective tissues. Connective tissues are comprised of proteins that support bones, skin, blood vessels and other organs, like the heart.

As such, EDS usually affects the skin, joints and blood vessel walls. Symptoms can range from mild to severe depending on the type of EDS. Typical symptoms may include:

• loose (hyperextensible) joints

• fragile and small blood vessels

• easy bruising

• abnormal scar formation and wound healing

• soft, velvety skin that stretches very easily and is fragile

There are several types of EDS, which are characterized by their clinical features and genetic causes.

• The arthrochalasia type, which is characterized by congenital hip dislocation.

• The classic type, which is characterized by wounds that split open and develop wide scars called "cigarette paper" scars.

• The dermatosparaxis type, which is characterized by skin that is fragile, wrinkles and sags.

• The hypermobility type, which is characterized by a large range of hypermobility with an absence of significant skin findings (i.e. scarring, hyperextensibility, and fragility) and soft tissue abnormalities.

• The kyphoscoliosis type, which is characterized by progressive curving of the spine that can lead to breathing problems.

• The vascular type, which is associated with an increased risk of internal bleeding, stroke, and organ rupture, including intestinal tearing and uterine rupture during pregnancy.

Other types of the EDS are thought to exist, but they are yet to be adequately characterized or identified.

Treatment

There is currently no cure for EDS. However, early diagnosis, routine surveillance and treatment can help to manage some of the symptoms and sometimes prevent related problems.

How Common Is It?

About 1 in 5,000 people worldwide are affected with Ehlers-Danlos syndrome. The classic and hypermobility types are the most common types.

Genetics & Inheritance

Ehlers-Danlos Syndrome is caused by mutations in one of several different genes. Not all affected people have genetic causes that are identifiable. As such, other yet to be identified or adequately classified genes may also cause EDS.

We all have two copies of most genes - one from each parent. The genetic inheritance patterns of EDS vary by specific type.

• The dermatosparaxis and kyphoscoliosis types (and some cases of classic and and hypermobility types) have autosomal recessive inheritance, which means that two mutations are necessary to cause disease, one inherited from each parent. Both parents of an affected person are always both obligate carriers (each have only one mutation). Two carriers have a 25% chance with each pregnancy to have an affected child, but do not have symptoms themselves.

• The arthrochalasia, classic, hypermobility, and vascular types typically have autosomal dominant inheritance, which means that having a mutation in a single gene copy is sufficient to cause disease. An affected person has a 50% chance with each pregnancy to have an affected child. Because the severity of symptoms can be mild, some people with EDS are unaware that they are even affected.

There are other genetic and non-genetic conditions that have symptoms that overlap with EB.

A genetic consultation with a trained genetic professional is important for a complete evaluation, accurate diagnosis, as well as discussion of the benefits and limitations of testing and recurrence risk.

Genetic Testing

• Diagnostic testing may be used to confirm or rule out a diagnosis in a person suspected to have the disorder.

• Carrier testing for EDS types with autosomal recessive inheritance is typically offered after a clinical diagnosis and/or mutations have already been identified in an affected family member(s).

Clinical genetic testing for some types of Ehlers-Danlos syndrome is available through an in person genetic consultation for people who are considered at risk. Use our find a genetic professional directory to locate a trained genetic professional in your area.

• A medical geneticist can also be found at the American College of Medical Genetics website.

• A genetic counselor can also be found at the National Society of Genetic Counselors website.

Support & More Information

More information can be found at:

• MedlinePlus
• Genetics Home Reference

• Ehlers-Danlos National Foundation

Alternative Names

• EDS
• Ehlers Danlos disease