Patient Resources for Medical Genetics
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 Conditions
- 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
- Hereditary Hemhorrhagic Telangiectasia (HHT): What You Need to Know
- Klinefelter Syndrome: 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