Genetic Diseases

Question 1

Angelman syndrome

Answer 1

Affects the nervous system. Comes with frequent seizures, a smaller head size, hard time with speech, and they usually flap their arms around

Question 2

Moebius syndrome

Answer 2

Cranial nerves effected. Hard time smiling because facial muscles are effected. Inability to move eyes

Question 3

Ehlers danlos syndrome (EDS)

Answer 3

Loose stretchy skin

Question 4

Thalassemia

Answer 4

Blood disorder where it makes an abnormal form of hemoglobin. Results in large number of destroyed red blood cells

Question 5

Congenital heart defects

Answer 5

Heart abnormalities present when the child is born. Excess amount of blood in lungs, not enough blood in lungs, or not enough blood flows through the body

Question 6

Fragile X syndrome

Answer 6

X linked disorder on the FMR1 gene. Affects boys more than girls

Question 7

Neurofibromatosis

Answer 7

Body begins to grow tumors that are both inside and outside the body

Question 8

Marfan syndrome

Answer 8

Effects connective tissue. Tall and thin

Question 9

Klinefelter syndrome

Answer 9

Male gets one or more additional X chromosome making them more feminine with enlarged breast tissue low muscle mass and infertility

Question 10

Prader- willi syndrome

Answer 10

Excessive hunger causing obesity

Question 11

Cornelia de Lange

Answer 11

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Question 12

Ichthyosis

Answer 12

Tough scaly skin

Question 13

Wilsons disease

Answer 13

A build up of copper in the organs which can cause eye discoloration

Question 14

Xeroderma pigmentosum

Answer 14

Causes dry skin, blistering, sunburn, and hard to go in sunlight

Question 15

Muscular dystrophy

Answer 15

-interfere with the production of proteins causing loss of muscle mass

Question 16

Waardenburg syndrome

Answer 16

Changing of hair skin and eye color

Question 17

Polycystic kidney disease

Answer 17

High blood pressure, urine tract infection, kidney stones, bloody urine, cysts on kidney

Question 18

Velocardiofacial syndrome

Answer 18

Chromosome 22 cleft palet

Question 19

Hartnup’s disease

Answer 19

-

Question 20

Spina bifida

Answer 20

-neural tube is affected. Sac appears on back.

Question 21

Hunters syndrome

Answer 21

Sugar

Question 22

Tay-sachs

Answer 22

-

Question 23

Cystic fibrosis

Answer 23

Salty skin lung problem

Question 24

Ataxia telangiectasia (AT)

Answer 24

-causes immobility, dilated blood veins, weak immune system, and speech problems

Question 25

Achondroplasia

Answer 25

Form of short limbed dwarfism

Question 26

Cri-du-chat

Answer 26

High pitched cry like a cat

Question 27

Hemophilia

Answer 27

Blood doesn’t clot normally

Question 28

Huntington

Answer 28

Brain disorder causing uncontrolled movements, emotional problems, and loss of thinking ability

Question 29

Patau syndrome

Answer 29

A person has an extra chromosome 13

Question 30

PKU

Answer 30

Causes an amino acid, phenylalanine, to build up in the body

Question 31

Polydactyly

Answer 31

More fingers or toes

Question 32

Sickle cell anemia

Answer 32

Red blood cells become misshapen and break down

Question 33

Turners syndrome

Answer 33

A female born with only one X chromosome