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Pediatric Genetic & Metabolic Conditions We Treat

We take specialized and evidence-based approaches to diagnosing children’s genetic and congenital disorders. When appropriate, we provide family-centered treatment for genetic conditions, and collaborate with other divisions at Lurie Children’s to provide comprehensive care for your child.

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22q11.2 Deletion Syndrome

A genetic disorder caused by the partial deletion of genetic material on one copy of a person’s chromosome 22.

Cardiofaciocutaneous Syndrome (CFC)

What Is Cardiofaciocutaneous Syndrome? Cardiofaciocutaneous syndrome (CFC) is a genetic condition that is part of a larger group of conditions called RASopathies. RASopathies arise when something goes wrong in a pathway involved in the way the cells of our bodies communicate the information they need to function properly. Since the cells of our...

Fabry Disease

Fabry disease is a rare genetic disease that runs in families. People affected by the disease cannot breakdown (metabolize) a fat called globotriaosylcermide (GL3). Read more.

Gaucher Disease

A deficiency of the enzyme beta-glucosidase, which breaks down a specific fatty substance, allowing it to accumulate in the body, resulting in anemia, low platelet count, etc.


A group of disorders that damage the covering of the nerve cells in the brain and spinal column, so they can no longer transmit signals between the brain and the body.

Marfan Syndrome

Marfan syndrome is a condition that affects the connective tissues of the entire body, including joints, eyes, heart, blood vessels, lungs, bones & spinal cord.

Metabolic Disorders

When several organs and glands (the liver, pancreas, and endocrine glands, for example) do not function correctly, causing an imbalance of enzymes or hormones in the cells.


Disorders caused by the deficiency of an enzyme that breaks down mucopolysaccharides, which then accumulate in the tissues of the body, causing various symptoms.


An inherited condition characterized by benign tumors in the cells surrounding nerves, occurring in two types: Type 1 found in younger children, and Type 2 in the older child.

Phenylketonuria (PKU)

An enzyme deficiency which prevents the metabolizing of one of the normal amino acids found in meat, bread, eggs, dairy, nuts and some fruits and vegetables.

Pompe Disease

A rare genetic disease of the heart and skeletal muscles caused by a lack alpha-glucosidase which results in the build-up of glycogen, disabling heart and skeletal muscles.

Skeletal Dysplasia

Also known as skeletal dysplasia, achondroplasia, or dwarfism, a group of about 400 congenital disorders characterized by abnormal growth of cartilage and bones.