Conditions

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...

Costello Syndrome

What Is Costello Syndrome? Costello syndrome is a genetic disorder that is a 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 bodies make up our tissues,...

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.

Leukodystrophy

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.

Mosaic RASopathies

RASopathies are a group of genetic conditions so named because they are caused by problems in the RAS pathway. Learn more.

Mucopolysaccharidoses

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

Neurofibromatosis

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.

Noonan Syndrome

What is Noonan Syndrome? Noonan syndrome 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 bodies make up our tissues, organs...