What is Marfan syndrome?
Affects connective tissues; characterized by long limbs, heart, and eye issues.
What is familial hypercholesterolemia?
Inherited condition leading to increased cholesterol levels, which can result in heart disease or heart attack.
What is Huntington’s disease?
A genetic brain disorder causing progressive movement problems, mood changes, and memory loss.
What is neurofibromatosis?
Condition where tumors grow on nerves, skin, and brain; can cause bone issues.
What is familial adenomatous polyposis?
Inherited condition where polyps grow in the colon and rectum; can lead to colon cancer.
What is cystic fibrosis?
A genetic disorder characterized by thick, sticky mucus in the lungs and digestive system.
What is G6PD deficiency?
Condition involving the breakdown of red blood cells.
What is Tay-Sachs disease?
A genetic disorder that is fatal, affecting nerve cells in the brain and spinal cord, leading to progressive weakness and early death in babies.
What is Wilson’s disease?
Condition where the body cannot rid itself of copper, resulting in copper rings on the eyes.
What is Klinefelter’s syndrome?
Condition in males with an extra or incomplete X chromosome; characterized by short stature, infertility, and heart/neck abnormalities.
What is Turner’s syndrome?
Condition in females with an extra or incomplete X chromosome; characterized by short stature, infertility, and heart/neck abnormalities.
What is Down syndrome?
Condition caused by an extra chromosome 21.
What is Prader-Willi syndrome?
Condition characterized by constant hunger, poor muscle tone, obesity, and developmental delays; caused by a missing gene on the father’s chromosome 15.
What is Angelman syndrome?
Condition causing intellectual disability, speech problems, movement issues, and frequent laughter; caused by missing genes on the mother’s chromosome 15.
What is hyponatremia?
Condition of low sodium levels leading to excess water, causing cell swelling, confusion, and seizures.
What is hypernatremia?
Condition of high sodium levels leading to dehydration, causing cell shrinkage and thirst.
What is hypokalemia?
Condition of low potassium levels leading to vomiting, diarrhea, muscle weakness, and arrhythmias.
What is hyperkalemia?
Condition of high potassium levels leading to renal failure, muscle cramps, and cardiac arrest.
What is hypocalcemia?
Condition of low calcium levels associated with hypoparathyroidism and vitamin D deficiency, leading to tetany and seizures.
What is hypercalcemia?
Condition of high calcium levels associated with hyperparathyroidism, leading to kidney stones, bone pain, and confusion.
What is hypovolemia?
Condition of low blood/fluid volume.
What is hypervolemia?
Condition of high blood/fluid volume.
What is respiratory alkalosis?
Condition characterized by decreased CO2 and increased pH, often caused by hyperventilation or anxiety; symptoms include fast breathing and dizziness/tingling.
What is metabolic acidosis?
Condition characterized by decreased HCO3- and decreased pH, often caused by acid buildup or loss of base; symptoms include Kussmaul breathing.