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 Hemhorrhagic Telangiectasia (HHT): What You Need to Know
• Español: Qué es la HHT
• 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

Genetic Testing

• Cancer: Common Questions About Cancer Genetic Testing
• Ehlers-Danlos Syndrome (EDS)

Hearing Loss

• Hearing Loss and Genetic Causes

Neurogenetics

• Spinal Muscular Atrophy (SMA): What You Need to Know

Patient Resources from Specific Genetic Clinics/Programs

• Down Syndrome Program
• Klinefelter Syndrome Clinic
• Lysosomal Disorders Clinic
• Myhre Syndrome Clinic
• Turner Syndrome Clinic

Tests and Procedures

• Aortic Imaging: What to Expect

Contact the Care Team

• Concerns in Medical Genetics: Who to Call