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Worksheets

Genetic Disorders and Birth Defects

Total questions: 50

Worksheet time: 25mins

Name
Class
Date
1.

One of the main indicators of severe autism is.......

a)

Child is non-verbal

b)

Child has severe aversions to sound

c)

Child has severe aversions to foods and smells.

d)

All of these.

2.

________________is a genetic disorder of the nervous system. It mainly affects how nerve cells form and grow. It causes tumors to grow on nerves.

a)

Cerebral Palsy

b)

Muscular Dystrophy

c)

Neurofibromatosis

d)

Downs Syndrome

3.

__________________ is a group of diseases that cause progressive weakness and loss of muscle mass. Abnormal genes (mutations) interfere with the production of proteins needed to form healthy muscle. There are many types of this condition.

a)

Neurofibromatosis

b)

Muscular Dystrophy

c)

Cerebral Palsy

d)

Achondroplasia

4.

______________ is a bone growth disorder that causes disproportionate dwarfism.

a)

Tay-sachs

b)

Downs Syndrome

c)

Seizures

d)

Achondroplasia

5.

Which tests are used to confirm Achondroplasia?

a)

DNA testing combined with fetal ultrasound

b)

Blood Tests & urine samples

c)

There are no prenatal test to confirm Achondroplasia

d)

Genetic testing of parents before pregnancy

6.

Defective blood vessels, leaky valves, shortness of breath and abnormal heart rhythms in children are all signs of______________________.

a)

Marfan Syndrome

b)

Congenital Heart Defects

c)

Achondroplasia

d)

Tay-Sachs Disease

7.

_______________ is caused by the absence of an enzyme that breaks down fatty substances causing a loss of motor skills during infancy.

a)

Achondroplasia

b)

Marfan Syndrome

c)

Huntington's Disease

d)

Tay-Sachs Disease

8.

Children with Tay-Sachs rarely live beyond 4 years of age.

a)

True

b)

False

9.

Which of the following is NOT a symptom of Achondroplasia?

a)

Skeletal dysplasia in bones

b)

Short fingers

c)

Enlarged head

d)

Hearing loss

10.

Which of these is the most common fatal genetic disease in North America?

a)

Cystic Fibrosis

b)

Turner Syndrome

c)

Cerebral Palsy

d)

Huntington's Disease

11.

______________are a category of neurological disorders related to malformations of the spinal cord, such as spina bifida, anencephaly, meningocele, myelomeningocele and tethered spinal cord syndrome.

a)

Neural Tube Defects

b)

Cleft Lip / Pallet

c)

Marfan Syndrome

d)

Achondroplasia

12.

Which of these IS NOT a method of diagnosing Neural Tube Defects in infants?

a)

During the 12 week ultrasound

b)

During the 18-20 week "anomaly ultrasound'

c)

During a blood test that scans for elevated AFP in the mother's blood.

d)

During urinalysis carried out at the regular 4 week prenatal visit.

13.

This nutrient helps prevent Neural Tube defects.

a)

Folic Acid

(B vitamin)

b)

Vitamin C

c)

Vitamin D

d)

Vitamin A in leafy green vegetables

14.

The majority of babies with Neural Tube Defects do not survive.

a)

True

b)

False

15.

_________________ is a condition in which a female infant is born with one missing or incomplete sex chromosome.

a)

Turner Syndrome

b)

Tay-Sachs Disease

c)

Cerebral Palsy

d)

Huntington's Disease

16.

Turner Syndrome causes all of the following except.......

a)

Short stature

b)

Infertility

c)

Heart defects

d)

Blindness

17.

Specific genetic testing can detect Turner Syndrome and is usually given to all infants born in a hospital setting.

a)

True

b)

False

18.

Which of the following IS NOT true of clubfoot diagnosis?

a)

10% diagnosed by 1o weeks of pregnancy

b)

80% diagnosed by 24 weeks of pregnancy

c)

Usually diagnosed visually by ultrasound or immediately after birth

d)

Often diagnosed when the child begins trying to walk at 10 -14 months of age.

19.

Most cases of ______________ are successfully treated with nonsurgical methods that may include a combination of stretching, casting, and bracing.

a)

Muscular Dystrophy

b)

Clubfoot

c)

Cerebral Palsy

d)

Achondroplasia

20.

The only cures for _______________ are stem cell and bone marrow transplants.

a)

Hemophilia

b)

Cystic Fibrosis

c)

Sickle Cell Anemia

d)

Turner Syndrome

21.

There is currently no cure for ___________. Effective treatments do exist, but they are expensive and involve lifelong injections several times per week to prevent bleeding.

a)

Hemophilia

b)

Turner Syndrome

c)

Sickle Cell Anemia

d)

Cystic Fibrosis

22.

Though caused by an inherited genetic mutation, _________________ is not usually diagnosed until age 30-40.

a)

Marfan Syndrome

b)

Cystic Fibrosis

c)

Turner Syndrome

d)

Huntington's Disease

23.

__________________________ is a rare, inherited disease that causes the progressive breakdown (degeneration) of nerve cells in the brain.

a)

Down Syndrome

b)

Neural Tube Defects

c)

Huntington's Disease

d)

Marfan Syndrome

24.

About 95 percent of the time, ___________________ is caused by trisomy 21 — the person has three copies of chromosome 21, instead of the usual two copies, in all cells.

a)

Huntington's Disease

b)

Down Syndrome

c)

Neural Tube Defects

d)

Cystic Fibrosis

25.

______________ caused by abnormal cell division during the development of the sperm cell or the egg cell and thus linked to parental age at conception.

a)

Down Syndrome

b)

Sickle Cell Anemia

c)

Turner Syndrome

d)

Hemophilia

26.

When someone is having a seizure do all but which of the following?

a)

Get people out of the way.

b)

Make sure they’re out of the way of sharp objects.

c)

Don’t try to stop their movements.

d)

Make sure they don't swallow their tongue.

27.

Should you turn a person having a seizure on their side?

a)

Yes

b)

No

28.

Confusion, staring, incontrollable movement, & loss of consciousness or awareness are all signs of ______________.

a)

Tay-sachs Disease

b)

A Seizure

c)

Severe Autism

d)

Marfan Syndrome

29.

Seizures occur along a wide spectrum and only SOME indicate Epilepsy.

a)

True

b)

False

30.

Some heart defects are simple and don’t need treatment.

a)

True

b)

False

31.

_____________ may require spine decompression to free the compressed spinal cord or nerve roots.

a)

Achondroplasia

b)

Cleft Lip/ Palette

c)

Neural Tube Defects

d)

Huntington's Disease

32.

Cleft LIp/Paette is associated with hearing loss.

a)

True

b)

False

33.

Flap Surgery is used to correct__________.

a)

Sickle Cell Anemia

b)

Clubfoot

c)

Cleft Lip/ Palette

d)

Neural Tube Defects

34.

Clubfoot is always treatable with braces and casts and never needs surgery for correction.

a)

True

b)

False

35.

Sickle Cell Anemia often speeds up the arrival of puberty.

a)

True

b)

False

36.

A shortened Achilles tendon can cause ___________________.

a)

Pain

b)

Hemophilia

c)

Clubfoot

d)

Cystic Fibrosis

37.

Spastic, Diskinetic , Ataxic, and Mixed are all types of __________________.

a)

Muscular Dystrophy

b)

Cerebral Palsy

c)

Sickle Cell Anemia

d)

Turner Syndrome

38.

A lack of B vitamins during pregnancy can lead to blindness, lack of consciousness, or possibly death in the infant.

a)

True

b)

False

39.

Life expectancy after diagnosis of Huntington's Disease is ___________.

a)

15-20 Months

b)

15-20 years

c)

2-4 years

d)

normal

40.

___________occurs when the tissue of the baby's face doesn't fuse properly during pregnancy.

a)

Clubfoot

b)

Cleft Lip/ Palette

c)

Seizures

d)

Down Sydrome

41.

Tiny white spots on the iris, a single line across the palm, flattened bridge of the nose, and almond shaped eyes (slanted up) are indicators of ___________________.

a)

Down Syndrome

b)

Huntington's Disease

c)

Marfan Syndrome

d)

Achondroplasia

42.

Osteotomy (cutting bone) to correct uneven growth or abnormal rotation of the bones is a common treatment for _______________.

a)

Sickle Cell Anemia

b)

Down Syndrome

c)

Tay -Sachs Disease

d)

Achondroplasia

43.

The symptoms of Tay-Sachs Disease (loss of motor skills, exaggerated reactions to noise, seizures, vision & hearing loss, & muscle weakness) usually appear around the age of ____________

a)

10 years

b)

6 years

c)

1 year

d)

6 months

44.

What percentage of Epileptic Seizures are facial only?

a)

20%

b)

30%

c)

60%

d)

80%

45.

The average lifespan for a person with Down Syndrome is ________________.

a)

60 years

b)

25 years

c)

5 years

d)

10 years

46.

One treatment for children with Down Syndrome is ____________.

a)

Medication

b)

Diet

c)

Surgery

d)

Speech Therapy

47.

People with Muscular Dystrophy often live to ____________ now.

a)

15-20

b)

20-25

c)

30-40

d)

40-50

48.

Muscle biopsy is one method of diagnosing _____________.

a)

Muscular Dystrophy

b)

Cerebral Palsy

c)

Down Syndrome

d)

Cystic Fibrosis

49.

__________________is a genetic disorder of the nervous system. It mainly affects how nerve cells form and grow. It causes tumors to grow on nerves.

a)

Cystic Fibrosis

b)

Cerebral Palsy

c)

Huntington's Disease

d)

Neurofibromatosis

50.

A common treatment for Neurofibromatosis is _____________.

a)

Braces/ Casts

b)

Surgery / Chemotherapy

c)

Seizure Medications