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Congenital Disorders of Glycosylation (CDG) Clinic

Congenital Disorders of Glycosylation (CDG) Clinic

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The Congenital Disorders of Glycosylation (CDG) Clinic at Children's Hospital of Philadelphia (CHOP) provides diagnostic testing and comprehensive care for patients suspected of having congenital disorders of glycosylation (CDG).

CDGs are a large group of rare genetic disorders that cause a wide range of health problems and can affect every part of the body.

CDG interferes with the body’s ability to add sugar building blocks to proteins which our bodies need to function properly. There are more than 130 different forms of CDG, each with different genetic causes and each presenting its own unique set of health problems.

We help families by:

  • Providing detailed information about your child’s specific CDG diagnosis
  • Coordinating testing, treatment
  • Sharing patient-specific recommendations
  • Offering genetic counseling and access to research studies

Who we treat

The CDG Clinic is available to any patient – child or adult – who is suspected of having or been diagnosed with a congenital disorder of glycosylation (CDG). We welcome patients whether or not that have already been seen by a doctor within the CHOP system.

How we serve you

We offer extensive diagnostic testing for patients suspected of having CDG, coordinate treatment for patients diagnosed with CDG and provide comprehensive care management based on your child’s specific type of CDG.

Conditions we treat

Our program treats children with congenital disorders of glycosylation (CDG), a large group of rare genetic disorders that cause a wide range of health problems.

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Meet your team

Every person on your child's medical team has the same goal: to give your child the best possible care. Our team is led by physicians with special expertise in CDG and includes genetics counselors.

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Our research

Physicians and researchers at CHOP are actively investigating congenital disorders of glycosylation (CDG) to better understand the different genetic causes and unique health changes patients face.

Patient stories

Our Stories
Mysterious symptoms in one family’s three children leads to identification at CHOP of a new form of congenital disorder of glycosylation (CDG).

Your donation changes lives

Philanthropic donations fuel breakthrough discoveries, innovative care and pioneering treatments in the Division of Human Genetics at CHOP.

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