Testing & diagnosis for ehlers danlos syndrome in children

Boston Children's doctors use different criteria for diagnosing the different types of EDS. Some types can be diagnosed with a DNA test, while others are diagnosed by a physical exam and health history. For example, a DNA test for certain genetic mutations can be done for the classical, vascular, kyphoscoliosis and arthrochalasis types of EDS. A prenatal diagnosis is possible for these types as well. Some of the other tests to diagnosis EDS include:

  • urine testing to check for abnormal levels of certain substances, which can indicate kyphoscoliosis type EDS; this test is recommended for infants with at least three symptoms
  • skin biopsy to identify abnormalities in your child's skin's collagen fibers to help diagnose vascular type EDS
  • heart ultrasound to checks for mitral valve prolapse and aortic dilatation that can occur with classical and hypermobility type EDS

When an underlying genetic cause is not known, your child's medical team can diagnose EDS through a physical examination and a medical and family history. Symptoms, such as loose joints, fragile skin and a family history for EDS, help lead doctors to an accurate diagnosis.