Genetic Conditions We Identify

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.

Browse Alphabetically

22q11.2 Deletion Syndrome

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

Fabry Disease

A rare, inherited, progressive disorder where a fat called globotriasylcermide builds up in the cells, causing intense pain, gastrointestinal symptoms, fatigue and other symptoms.

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

A condition that affects the entire body; specifically the connective tissues of the joints, eyes, heart, blood vessels, lungs, bones, and covering the brain and 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.


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.