Ehlers-Danlos Syndrome | Symptoms & Causes
What are the symptoms of Ehlers-Danlos syndrome?
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
What causes Ehlers-Danlos syndrome?
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.
Ehlers-Danlos Syndrome | Diagnosis & Treatments
How is Ehlers-Danlos syndrome diagnosed?
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)
How is Ehlers-Danlos syndrome treated?
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.
How we care for Ehlers-Danlos syndrome at Boston Children’s Hospital
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.
