Medical Conditions - Introduction

Question 1

Achondroplasia

Answer 1

dwarfism

Question 2

cri du chat

Answer 2

chromosome 5 is missing, infants have high pitched cry, less intellectual disability

Question 3

galactosemia

Answer 3

body cannot process the sugar galactose

Question 4

phenylketonuria

Answer 4

increases phenylaanine in body. proteins can act like poisions

Question 5

hemophilia

Answer 5

blood doesnt clot normally

Question 6

muscular dystrophies

Answer 6

group of dieases that cause progressive weaknesses and loss of muscle mass

Question 7

porphyria

Answer 7

group of disorders that result from a buildup of natural chemicals that lead to heme production

Question 8

tay-sachs diease

Answer 8

autosome disorder that progressively destroys nerve cells in brain and spinal cord

Question 9

Alzheimer’s

Answer 9

memory loss, dementia, neurological disorder

Question 10

celiac diease

Answer 10

autoimmune disorder where injestion of gluten leads to damage in the small intestine

Question 11

fragile X syndrome

Answer 11

causes developmental problems like learning disabilities

Question 12

huntingtons disease

Answer 12

progressive breakdown of nerve cells in brain affects muscle coordination

Question 13

lesch- nyhan syndrome

Answer 13

occurs in males and affects how body builds up and breaks down purines, causes involunatary muscle movements

Question 14

nuerofibromatosis

Answer 14

is a genetic disorder that disturbs cell growth in your nervous system, causing tumors to form on nerve tissu

Question 15

prader-willi syndrome

Answer 15

congenital (present from birth) disease. It affects many parts of the body. People with this condition are obese, have reduced muscle tone and mental ability, and have sex glands that produce little or no hormones.

Question 16

thalaseemias

Answer 16

is a blood disorder passed down through families (inherited) in which the body makes an abnormal form of hemoglobin, the protein in red blood cells that carries oxygen.

Question 17

angelman syndrome

Answer 17

s a neuro-genetic disorder characterized by severe intellectual and developmental disability, sleep disturbance, seizures

Question 18

G-6-PD

Answer 18

Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency is a hereditary condition in which red blood cells break down when the body is exposed to certain drugs or the stress of infection.

Question 19

hypercholestrolemia

Answer 19

is a condition characterized by very high levels of cholesterol in the blood

Question 20

marfan syndrome

Answer 20

is a disorder of connective tissue, the tissue that strengthens the body’s structures.

Question 21

Parkinson’s disease

Answer 21

is a disorder of the brain that leads to shaking (tremors) and difficulty with walking, movement, and coordination

Question 22

progeria

Answer 22

rare genetic condition that produces rapid aging in children

Question 23

xeroderma pigmentosum

Answer 23

vampire syndrome. is a rare condition passed down through families in which the skin and tissue covering the eye are extremely sensitive to ultraviolet light.

Question 24

cystic fibrosis

Answer 24

disease passed down through families that causes thick, sticky mucus to build up in the lungs, digestive tract, and other areas of the body