Genetic Disorders and Birth Defects

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

• Child is non-verbal

• Child has severe aversions to sound

• Child has severe aversions to foods and smells.

• All of these.

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

• Cerebral Palsy

• Muscular Dystrophy

• Neurofibromatosis

• Downs Syndrome

__________________ 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.

• Neurofibromatosis

• Muscular Dystrophy

• Cerebral Palsy

• Achondroplasia

______________ is a bone growth disorder that causes disproportionate dwarfism.

• Tay-sachs

• Downs Syndrome

• Seizures

• Achondroplasia

Which tests are used to confirm Achondroplasia?

• DNA testing combined with fetal ultrasound

• Blood Tests & urine samples

• There are no prenatal test to confirm Achondroplasia

• Genetic testing of parents before pregnancy

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

• Marfan Syndrome

• Congenital Heart Defects

• Achondroplasia

• Tay-Sachs Disease

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

• Achondroplasia

• Marfan Syndrome

• Huntington's Disease

• Tay-Sachs Disease

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

• True

• False

Which of the following is NOT a symptom of Achondroplasia?

• Skeletal dysplasia in bones

• Short fingers

• Enlarged head

• Hearing loss

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

• Cystic Fibrosis

• Turner Syndrome

• Cerebral Palsy

• Huntington's Disease