Pediatric Genetic & Metabolic Conditions We Treat

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

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...

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

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

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.

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

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.

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...