6 Hereditary, Congenital and Childhood Diseases (Unit 2)

Question 1

congenital

Answer 1

the condition is present at birth

Question 2

hereditary

Answer 2

the condition is capable of being passed from parent to offspring through genes

Question 3

list the Autosomal Dominant Disorders

Answer 3

Huntington's Disease
Polydactyly
Achondroplasia
Marfan Synrome
Familial hypercholesterolemia

Question 4

Polydactyly

Answer 4

Person has more than 5 fingers/toes per hand/foot

Question 5

Achondroplasia

Answer 5

The common cause for dwarfism. Shorter stature average adult:
→Male 52 inch.
→Female 48 inch.

Question 6

Marfan Synrome

Answer 6

Affects body’s connective tissue.

Results in heart defects, heart valve defects, aorta defects and possible earth death.

Affects lungs, eyes, spinal cord, skeletal, part of mouth

Question 7

Familial hypercholesterolemia

Answer 7

“High cholesterol caused by genes”. Defect makes body unable to remove LDL (low density lipoprotein aka fat) resulting in early atherosclerosis.

Get tested in 20s b/c if you wait until older, plaque build-up is irreversible/you’re @higher risk for heart disease.

Question 8

Huntington’s Disease

Answer 8

Causes the breakdown/degeneration of nerve cells in the brain

Question 9

list the Autosomal Recessive Disorders

Answer 9

Cystic Fibrosis
Hemochromatosis
Phenylketonuria (PKU)
Galactosemia
Sickle cell anemia
Tay-Sachs
Albinism

Question 10

Cystic fibrosis

Answer 10

Hereditary condition affecting the exocrine glands of the lugs and pancreas causing excessive mucous production

(Risk factors, Signs/Symps., Diagnosis, Treatment, 9/28 pg. 5)

Question 11

Phenylketonuria (PKU)

Answer 11

Increases the level of phenylalanine (which is in artificially sugary stuff like soda), which if left untreated, leads to intellectual disability, etc.

Question 12

Galactosemia

Answer 12

Unable to fully breakdown galactose (a simple sugar) which is half of lactose (other half’s glucose).

If infant is given milk, galactose will build up resulting in brain damage, liver damage, kidney and eye damage. Can’t tolerate breast milk of formula

Question 13

Sickle cell anemia

Answer 13

Body makes sickle (shriveled) shaped cells.

They’re sticky, stiff, clumped together and block blood flow causing pain and organ damage and raises person’s chance of infection.

Question 14

Tay-Sachs

Answer 14

Progressively destroys nerve cells in brain and spinal cord.

Disorder’s more obvious at 3-6 month age though their lack of motor skills. They’ll experience seizures, vision/hear loss, intellectual disability, paralysis.
Mostly affects Eastern European Jews.

Question 15

Albinism

Answer 15

Person has little to no pigment in eyes, skin or hair. Pigment’s called melanin. Affects 1 in 17 thousand in US.

Question 16

Down Syndrome/Trisomy 21

Answer 16

An abnormal chromosome disorder that’s caused by an extra autosomal chromosome

(Prevelence, Characteristics, Complications, Screening Treatment 9/30 pg. 2)

Question 17

Nuchal Translucency

Answer 17

A screening test for down syndrome that’s done at 12 weeks pregnant. It’s a blood test that’s usually done with the ultrasound and the fetal neck is measured.

Question 18

Chorionic villus sampling/CVS

Answer 18

A screening test for down syndrome that takes tissue from placenta which has the same genetics as fetus via cervix or needle through abdominal wall

Question 19

Amniocentesis

Answer 19

A screening test for down syndrome in which the amniotic fluid is taken from uterus.

Question 20

list Congenital Disorders

Answer 20

Congenital Rubella
Cerebral palsy
Hydrocephalus
Congenital heart disease
Congenital disorders of the intestine
Spina bifida
Cleft lip and Cleft palate

Question 21

Spina bifida

Answer 21

When baby’s brain, spinal cord, spine and the tissues that enclose them don’t form properly

3 types:
SB Occulta
SB Meningocele
SB Meningomyelocele

Question 22

Cleft lip and Cleft palate

Answer 22

can be surgically expired

Question 23

Childhood diseases

Answer 23

Measles
Mumps
Chickenpox
Pertussis/Whooping Cough
Autism Spectrum Disorders

Question 24

Measles

Answer 24

Causative agent→ Rubeola virus

Signs/Symps→ Koplik spots on inside of mouth, Rash that starts on head and goes down, (more on 9/30 pg. 3)

Complication→ Pneumonia, Encephalitis

(Transmission, more Signs/Symp., Diagnosis, Treatment, Prevention 9/30 pg. 3)

Question 25

Koplik spots

Answer 25

looks like tiny grains of white sand w/surrounding red ring

Question 26

Encephalitis

Answer 26

swelling/inflammation of brain

Question 27

Mumps

Answer 27

Causative Agent→ Paramyxovirus

Signs/Symp.:

• Painful chewing/swallowing
• Earache as a result of swelling/pain in parotid glands

(more Signs/Symp., Complications, Diagnosis, Treatment, Prevention 9/30 pg. 4)

Question 28

Chickenpox

Answer 28

Causative Agent→ Varicella zoster virus

Signs/Symp.→ Itchy rash on chest/face turning into pink spots eventually blisters

(Transmission, more Signs/Symp., Complications, Diagnosis, Treatment, Prevention 9/30 pg. 4)

Question 29

Pertussis/Whooping Cough

Answer 29

Causative agent→ Bordetella pertussis bacterium

Sign/Symp.→ Coughing spells with whooping sound at inspiration

(Transmissions, Complications, Diagnosis, Treatment, Prevention 9/30 pg.5)

Question 30

Autism Spectrum Disorders

Answer 30

Range of developmental disorders causing difficulties with thinking, feeling, socializing, language

(Prevalence, Signs/Symp., Diagnosis, Treatment 9/30 pg. 5)