Congenital Disorders of Glycosylation (CDG) Clinic

The Congenital Disorders of Glycosylation (CDG) Clinic manages diagnostic testing for patients who are suspected of having congenital disorders of glycosylation (CDG), a large group of rare genetic disorders that cause a wide range of health problems. By interfering with the ability to add sugar building blocks to proteins, CDG can affect the function of cells in every part of the body.

There are more than 130 different forms of CDG with different genetic causes. Each form presents with a unique set of health problems, which can vary from mild to severe.

Who we are

The CDG Clinic team is led by a physician with special expertise in CDG, including a genetics counselor, a nurse, a research coordinator and an administrator. The CDG Clinic is part of the Division of Human Genetics.

What we do

The CDG Clinic manages diagnostic testing for patients who are suspected of having CDG, and coordinates treatment for patients who have been diagnosed with CDG. We work to ensure appropriate and comprehensive care management based on the patient’s specific CDG type. We:

Provide detailed information about a patient’s specific CDG diagnosis to families and answer any questions parents and other family members may have.

  • Coordinate testing and treatment provided by specialists at CHOP.
  • Send the patient’s local doctors a letter with detailed, patient-specific recommendations on managing the condition, including monitoring, testing and ongoing treatment and support.
  • Facilitate connections to CDG family support and advocacy groups.
  • Provide training to parents and caregivers on the patient’s special care needs.
  • Provide genetic counseling to parents to explain the risk of having another child with the condition if desired. We can also provide counseling to the patient’s adult siblings.

If patients and families are interested, the CDG Clinic serves as an access point for enrollment in CDG-related clinical research.

Who we treat

The CDG Clinic is available to any patient, child or adult, who has been diagnosed with CDG or who is suspected of having any form of the condition. The Clinic is open to patients whether or not they are already seen by a doctor within the CHOP system.

If you believe your child may benefit from the CDG Clinic, please speak with your physician about a referral to the Clinic, call 215-590-3376, or contact us online.