Rare Genetic Syndromes

Rare genetic syndromes are a group of uncommon conditions that affect children, some of which may not be identified by a specific diagnosis. These genetic or metabolic conditions can be present at birth or may appear later in childhood.

Symptoms of these conditions vary widely. As a result, your child’s care team may include expert:

• Doctors
• Metabolic dieticians
• Nurse practitioners
• Genetic counselors
• Social workers
• Child Life specialists
• Pastoral Care

Treatments may include:

• Nutritional therapy
• Genetic counseling
• Clinical trials