Name: Score:

50 Multiple choice questions

Definition 1 of 50
the most common type of cancer in the United States; most common: basal cell carcinoma; most
virulent: melanoma

Prostate Cancer

Colon Cancer

Skin Cancer

Breast Cancer

Definition 2 of 50
a disorder characterized by elevated levels of multiple different antibodies that are associated
with both arterial and venous thrombosis (clots in the arteries and veins)

Protein C Deficiency

Antiphospholipid Syndrome

Hemophilia

Noonan Syndrome

Definition 3 of 50
the most common cancer in American men aside from skin cancer; symptoms include problems
with urination and sexual function

Prostate Cancer

Skin Cancer

Breast Cancer

Colon Cancer
Definition 4 of 50
a rare, congenital eye movement disorder characterized by a miswiring of the eye muscles,
causing some eye muscles to contract when they shouldn't and other eye muscles not to contract
when they should

Klinefelter Syndrome

Wilson Disease

Medulloblastoma

Duane Syndrome

Definition 5 of 50
a neurological condition that typically causes tremor and/or stiffness in movement

Alzheimer's Disease

Huntington's Disease

Wilson Disease

Parkinson's Disease

Definition 6 of 50
an inherited neurological disease characterized by a slowly progressive degeneration of the
muscles in the foot, lower leg, hand, and forearm, and a mild loss of sensation in the limbs,
fingers, and toes

Charcot-Marie-Tooth Disease (CMT)

Tay-sachs Disease (tsd)

Motor Neuron disease

Amyotrophic lateral sclerosis (als)

Definition 7 of 50
an idiopathic (of unknown cause) chronic inflammatory disorder of the bowel that involves any
region of the gastrointestinal tract from the mouth to the anus

Cystic Fibrosis

Colon Cancer

Ulcerative Colitis

Crohn's Disease

Definition 8 of 50
a fatal genetic disorder caused by the absence of a vital enzyme called hexosaminidase-A (Hex-
A) that results in progressive destruction of the nervous system

Charcot-marie-tooth Disease (cmt)

Klinefelter syndrome

Huntington's disease

Tay-Sachs Disease (TSD)

Definition 9 of 50
an inherited disease characterized by recurrent attacks of fever, inflammation of the abdominal
lining (peritonitis), inflammation of the lining surrounding the lungs , painful, swollen joints, and a
characteristic ankle rash

Amyloidosis

Tay-sachs disease (tsd)

Familial Mediterranean Fever (FMF)

Holoprosencephaly (hpe)
Definition 10 of 50
a chromosomal condition related to chromosome 21 that affects 1 in 800 to 1 in 1000 live born
infants

Hemophilia

Down Syndrome

Cystic Fibrosis

Klinefelter Syndrome

Definition 11 of 50
a bleeding disorder that slows down the blood clotting process; can lead to spontaneous
bleeding into the joints and muscles in severe cases; occurs more commonly in males than in
females

Cystic Fibrosis

Hemophilia

Colon Cancer

Huntington's Disease

Definition 12 of 50
an inherited disorder of metabolism that causes an increase in the blood of a chemical known as
phenylalanine

Cystic fibrosis

Sickle cell disease

Phenylketonuria (PKU)

Huntington's disease
Definition 13 of 50
a genetic disease that alters the body's ability to regulate iron absorption

Hemophilia

Thalassemia

Hemochromatosis

Cystic Fibrosis

Definition 14 of 50
an extremely rare genetic disease of childhood characterized by dramatic, premature aging

Hemophilia

Huntington's Disease

Progeria

Down Syndrome

Definition 15 of 50
an inherited disorder of connective tissue occurring once in every 10,000 to 20,000 individuals;
caused by mutations in the FBN1 gene

Achondroplasia

Autism

Marfan Syndrome

Cystic Fibrosis
Definition 16 of 50
an inherited disorder of blood clotting caused by a specific mutation called Factor V Leiden; the
most common inherited form of thrombophilia

Someone Who Has Homozygous Mutations For Factor V Leiden

Sickle Cell Disease

Factor V Leiden Thrombophilia

Hypertension

Definition 17 of 50
an underdevelopment or absence of the chest muscle on one side of the body and webbing of
the fingers of the hand on the same side

Poland Anomaly

Sprengel Anomaly

Klippel-fiel Anomaly

Hemophilia

Definition 18 of 50
a group of inherited eye diseases that affect the retina (the light-sensitive part of the eye), and
cause the breakdown of photoreceptor cells (cells in the retina that detect light)

Retinitis Pigmentosa

Crohn's Disease

Cystic Fibrosis

Retinal Detachment
Definition 19 of 50
a group of disorders that causes a block in a metabolic pathway leading to clinically significant
consequences

Congenital Immunodeficiency Disorders

Wilson Disease

Inborn Errors of Metabolism

Gene

Definition 20 of 50
a group of different diseases, each caused by a specific abnormality in the heme production
process

Hemophilia

Porphyria

Thalassemia

Hemochromatosis

Definition 21 of 50
a genetic disorder that causes a person's bones to break easily, often from little or no apparent
trauma; also called "brittle bone disease"

Tay-sachs Disease (tsd)

Osteogenesis Imperfecta (OI)

Thalassemia

Down syndrome
Definition 22 of 50
an inherited intellectual disability caused by a mutation in the FMR1 gene; the most common form
of inherited intellectual disability in males and is also a significant cause of intellectual disability in
females

Marfan Syndrome

Fragile X Syndrome

Turner Syndrome

Klinefelter Syndrome

Definition 23 of 50
a group of inherited disorders in which the body is unable to process certain proteins and fats
(lipids) properly; the inability to change, or "metabolize," a substance called called methymalonyl-
coenzyme A

Methylmalonic Acidemia (MMA)

Isovaleric Acidemia (iva)

Propionic Acidemia (pa)

Phenylketonuria (pku)

Definition 24 of 50
a group of inherited red blood cell disorders caused by a mutation in the hemoglobin-Beta gene
found on chromosome 11; causes red blood cells to pile up, causing blockages and damaging
vital organs and tissue

Sickle Cell Disease

Hemophilia

Cystic Fibrosis

Huntington's Disease
Definition 25 of 50
the most common fatal genetic disease in the United States; causes the body to produce thick,
sticky mucus that clogs the lungs, leads to infection, and blocks the pancreas which stops
digestive enzymes from reaching the intestine where they are required in order to digest food

Huntington's Disease

Cystic Fibrosis

Hemophilia

Thalassemia

Definition 26 of 50
a disorder of bone growth caused by a mutation in the FGFR3 gene; the most common form of
disproportionate short stature that occurs in one in every 15,000 to one in 40,000 live births

Down Syndrome

Huntington's Disease

Cystic Fibrosis

Achondroplasia

Definition 27 of 50
the second most common cancer in women after skin cancer, and is commonly caused by
mutated forms of either BRCA1 (on chromosome 17) or BRCA2 (on chromosome 13) genes

Prostate Cancer

Skin Cancer

Colon Cancer

Breast Cancer
Definition 28 of 50
an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called
glucocerebroside cannot be adequately degraded

Cystic Fibrosis

Gaucher Disease

Dercum Disease

Tay-sachs Disease

Definition 29 of 50
an inherited condition that causes high levels of low density lipoprotein (LDL) cholesterol
beginning at birth and heart attacks at an early age

Familial Hypercholesterolemia

Cystic Fibrosis

Thalassemia

Marfan Syndrome

Definition 30 of 50
a group of inherited diseases of the blood that affect a person's ability to produce hemoglobin,
resulting in anemia

Thalassemia

Hemochromatosis

Cystic Fibrosis

Hemophilia
Definition 31 of 50
a rare genetic condition that is caused by the deletion of genetic material on the the p arm of
chromosome 5

Fragile x syndrome

Turner syndrome

Cri du Chat Syndrome

Klinefelter syndrome

Definition 32 of 50
an inherited type of muscular dystrophy that affects the muscles and other body systems;
characterized by muscle wasting and weakness in the lower legs, hands, neck and face that get
worse over time

Spinal Muscular Atrophy

Fragile X Syndrome

Huntington's Disease

Myotonic Dystrophy

Definition 33 of 50
a severe, genetic condition of the immune system; makes those affected highly susceptible to life-
threatening infections by viruses, bacteria and fungi

Crohn's disease

Autoimmune disease

Cystic fibrosis

Severe Combined Immunodeficiency (SCID)

Definition 34 of 50
a relatively common birth defect of the brain, which often can also affect facial features, including
closely spaced eyes, small head size, and sometimes clefts of the lip and roof of the mouth, as
well as other birth defects; caused by the failure of the prosencephalon (the embryonic forebrain)
to sufficiently divide into the double lobes of the cerebral hemispheres

Porphyria

Holoprosencephaly (HPE)

Noonan syndrome

Osteogenesis imperfecta (oi)

Definition 35 of 50
a rare condition that is characterized by multiple, painful fatty tumors that occur chiefly in post-
menopausal, obese women of middle age

Colon Cancer

Gaucher Disease

Dercum Disease

Wilson Disease

Definition 36 of 50
an inherited condition that causes low levels of, or no, alpha-1 antitrypsin in the blood

Alpha-1 Antitrypsin Deficiency

Alpha-6 Antitrypsin Deficiency

Alpha-4 Antitrypsin Deficiency

Alpha-99 Antitrypsin Deficiency

Definition 37 of 50
a broad group of developmental disorders characterized by impaired social interactions,
problems with verbal and nonverbal communication, and repetitive behaviors or severely limited
activities and interests

Down Syndrome

Parkinson's Disease

Dementia

Autism

Definition 38 of 50
a chromosomal condition that alters development in females; XO or 45, X

Fragile X Syndrome

Down Syndrome

Turner Syndrome

Klinefelter Syndrome

Definition 39 of 50
a metabolic condition in which an individual is not able to convert trimethylamine into a
compound called trimethylamine N-oxide

Tyrosinemia

Hemophilia

Trimethylaminuria

Alkaptonuria
Definition 40 of 50
a genetic disorder characterized by the growth of numerous cysts in both kidneys, and is one of
the most common forms of polycystic kidney disease

Velocardiofacial syndrome (vcfs)

Noonan syndrome

Autosomal Dominant Polycystic Kidney Disease (PKD)

Tay-sachs disease (tsd)

Definition 41 of 50
a rare genetic condition that causes a person's body to store too much of the mineral copper
which can lead to organ damage that may cause death

Cystic Fibrosis

Wilson Disease

Crohn's Disease

Huntington's Disease

Definition 42 of 50
the most common syndrome associated with a cleft palate; characterized by a combination of
medical problems that vary from child to child including cleft palate, or an opening in the roof of
the mouth, and other differences in the palate, heart defects, problems fighting infection, low
calcium levels, differences in the way the kidneys are formed or work, a characteristic facial
appearance, learning problems, and speech and feeding problems

Turner

Noonan syndrome

Velocardiofacial Syndrome (VCFS)

Cystic Fibrosis
Definition 43 of 50
a rapidly progressive form of muscular dystrophy caused by a mutation in the DMD gene

Osteogenesis imperfecta (oi)

Cystic fibrosis

Marfan syndrome

Duchenne Muscular Dystrophy (DMD)

Definition 44 of 50
a group of inherited disorders that cause progressive muscle degeneration and weakness; the
second leading cause of neuromuscular disease; usually inherited as an autosomal recessive trait
(a person must get the defective gene from both parents to be affected)

Myotonic Dystrophy

Fragile X Syndrome

Cystic Fibrosis

Spinal Muscular Atrophy

Definition 45 of 50
a malignant tumor of the large intestine that affects both men and women

Breast Cancer

Prostate Cancer

Skin Cancer

Colon Cancer
Definition 46 of 50
a condition that occurs in men as a result of an extra X chromosome; 47, XXY

Turner Syndrome

Cri Du Chat Syndrome

Klinefelter Syndrome

Fragile X Syndrome

Definition 47 of 50
an inherited neurological illness causing involuntary movements, severe emotional disturbance
and cognitive decline

Hemophilia

Huntington's Disease

Cystic Fibrosis

Parkinson's Disease

Definition 48 of 50
a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin;
characterized by tumors or neurofibromas growing along the body's nerves or underneath the
skin

Myotonic Dystrophy

Klinefelter Syndrome

Cystic Fibrosis

Neurofibromatosis
Definition 49 of 50
a neurological disorder that affects a person's ability to control their behavior and pay attention to
tasks

Parkinson's disease

Narcolepsy

Attention Deficit Hyperactivity Disorder (ADHD)

Severe combined immunodeficiency (scid)

Definition 50 of 50
a disorder that involves unusual facial characteristics, short stature, heart defects present at birth,
bleeding problems, developmental delays, and malformations of the bones of the rib cage;
caused by changes in one of several autosomal dominant genes

Down Syndrome

Marfan Syndrome

Noonan Syndrome

Autism

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