Ehlers-Danlos Syndrome (EDS)

Ehlers-Danlos syndrome (EDS) is a group of genetic disorders that affect the connective tissues. Connective tissues are proteins, such as collagen, that provide elasticity and support to the joints, blood vessels, and skin.

Most children with EDS have hypermobile joints that are prone to full or partial dislocation. (However, there are several causes of hypermobility, and many children with hypermobile joints do not have EDS.) Many children with EDS also have soft, fragile skin and bruise easily.

EDS occurs in about one out of every 5,000 babies born worldwide. It can affect boys and girls from all racial and ethnic backgrounds.

There are several types of EDS. All types affect the joints and most affect the skin. Depending on the type they have, children with EDS may be prone to other conditions such as weak blood vessels, mitral valve prolapse, low bone density, kyphosis, scoliosis, inflammatory bowel disease, hearing loss, and hypotonia (muscle weakness).

The most common types of EDS include:

• Hypermobile EDS: Typical symptoms include joint hypermobility; soft, velvety skin that bruises easily; and chronic bone or muscle pain.
• Classical EDS: Symptoms may include elastic, stretchy skin that bruises easily, hypermobile joints, muscle weakness, and delayed development.
• Vascular EDS: This is the most severe type, and it affects the heart and other organs. Children with vascular EDS may also have short stature, recessed gums, and a low amount of fat under their skin.
• Kyphoscoliosis EDS: Children with this type typically have severe EDS at birth, delayed motor development, and progressive kyphosis and scoliosis.
• Arthrochalasis EDS: This includes joint hypermobility and congenital hip dislocation. Children with arthrochalasis EDS often have fragile, elastic skin that bruises easily, muscle weakness, kyphosis and scoliosis, and low bone mass.
• Dermatosparaxis EDS: This is the most rare of all types of EDS. Symptoms include extremely fragile skin that is prone to severe bruising, excess skin around the face, and hernias.

Symptoms of EDS can range from mild to life threatening, and depend on the type your child has. Some common symptoms include:

• Hypermobility in the hands, fingers, and toes
• Loose joints (for instance, hips, knees, shoulders, and elbows)
• Flat feet
• A high narrow palate with dental crowding
• Pale, smooth skin that bruises easily
• Skin that stretches easily
• Wounds that don't heal easily or wounds that scar in an abnormal pattern
• Muscle pain or joint pain
• Muscle weakness, especially when cold

Some children with EDS may also have:

• Delayed motor skills
• Large eyes, small chin, and thin nose and lips
• Small stature

EDS is a genetic disorder, caused by at least one copy of an altered gene. In some types of EDS, two copies of the gene are altered.

Sometimes the genetic mutation is inherited from a parent. In other cases, mutations can occur spontaneously in children with no family history of the disorder.

Genetic testing can be done for the classical, vascular, kyphoscoliosis, and arthrochalasis types of EDS. These types may also be diagnosed prenatally.

The other types of EDS are diagnosed based on a physical exam and health history. Symptoms such as loose joints, fragile skin, and a family history of EDS can help your child’s doctors make an accurate diagnosis.

Other tests for EDS may include:

• Urine testing
• Skin biopsy
• Echocardiogram (cardiac ultrasound)

While there is no cure for EDS, your child’s medical team will work to manage the symptoms and prevent potential health risks in the future. This may include medications for joint pain or bracing to stabilize joints. Physical and occupational therapy can help strengthen muscles around your child’s joints and improve their quality of life.

Orthopedic surgery may be recommended to stabilize loose or damaged joints. However, EDS increases the risk of surgical complications. Surgery should therefore only be considered if more conservative forms of therapy have not succeeded. It's very important that the surgeon has knowledge and experience working with children with EDS.

Ehlers-Danlos syndrome is a complex condition, and your child will likely need care from a range of specialists. At Boston Children’s Hospital, your child’s care team may include clinicians from cardiology, orthopedics, ophthalmology, and otolaryngology (ear, nose, and throat). Each member of the team is experienced in treating kids with EDS.