Patient Resources from Medical Genetics at MGfC and Mass General
Care Guidelines and Protocols
Metabolic Disorders
- Maple Syrup Urine Disease (MSUD): Acute Care Plan
- MCADD: Going to the Emergency Room with MCADD
- Propionic Acidemia (PA): Acute Care Plan
- Urea Cycle Disorders (UCD): Acute Care Plan
- Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD): Acute Care Plan
Genetic Condition Overviews
- 22q11.2 Deletion Syndrome: What You Need to Know
- CHARGE Syndrome: What You Need to Know
- Costello Syndrome: What You Need to Know
- Down Syndrome: Patient Resources
- Fabry Disease: What You Need to Know
- Gaucher Disease: What You Need to Know
- Hereditary Hemorrhagic Telangiectasia (HHT): What You Need to Know
- Hunter Syndrome: What You Need to Know
- Klinefelter Syndrome: What You Need to Know
- Morquio Syndrome: What You Need to Know
- Mucopolysaccharidosis Type 1: What You Need to Know
- Phelan-McDermid Syndrome: What You Need to Know
- Prader-Willi Syndrome: What You Need to Know
- Sotos Syndrome: What You Need to Know
- Turner Syndrome: What You Need to Know
Hearing Loss
Patient Resources from Specific Genetic Clinics/Programs
- Down Syndrome Program
- Klinefelter Syndrome Clinic
- Lysosomal Disorders Clinic
- Myhre Syndrome Clinic
- Turner Syndrome Clinic
Contact the Care Team
Pediatric Health Information Library (PHIL)
Find educational materials on a wide range of pediatric health topics and specialties.