Deck 6: Congenital Diseases and Disorders
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Deck 6: Congenital Diseases and Disorders
1
What can individuals and/or families do to help prevent congenital diseases What is not able to be controlled
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Congenital defects are structural or functional abnormalities during the intrauterine period. It is identified at birth time or at some later stage of life. It is also known as birth defect.
Congenital disease can be prevented by following some instructions listed below:
• Mother or other family members should be aware of the diet which is taken during pregnancy. It should be supplemented with vitamins, minerals, folic acid and iodine (wheat or maize flours).
• Exposure to any harmful substances such as alcohol, drugs, smoke and pesticides during pregnancy should be avoided.
• Expecting couple should consult the doctor or counsellor and acquire the knowledge about the disorders or risk factors which can occur during pregnancy to the mother and child. They can have cytogenetic tests especially if there is a family history or mother's age above 35 year.
• Before and during pregnancy, mother should take vaccinations to protect herself and child. Other medical tests should also be completed.
• Expecting couple should take adequate counselling time to time from the doctor or counsellor about the control of weight gain and other diseases like diabetes and blood pressure.
• Mother should keep her away from any exposure to imaging rays, radiations or self-medication.
Congenital diseases are the complex interplay of some factors that include genetic factors, environmental factors and our behaviours towards life. Genetic factors are the gene that consists of the information about how body develops and its functioning. These are inherited from both parents. In each gene pair, dominant will precede over the recessive one. There are many birth defects that follow this mode of inheritance such as Marfan syndrome, dwarfism, Huntington's disease, glaucoma, and polydactyly. Inherited genetic information is random. Hence, genetic factors cannot be controlled.
Congenital disease can be prevented by following some instructions listed below:
• Mother or other family members should be aware of the diet which is taken during pregnancy. It should be supplemented with vitamins, minerals, folic acid and iodine (wheat or maize flours).
• Exposure to any harmful substances such as alcohol, drugs, smoke and pesticides during pregnancy should be avoided.
• Expecting couple should consult the doctor or counsellor and acquire the knowledge about the disorders or risk factors which can occur during pregnancy to the mother and child. They can have cytogenetic tests especially if there is a family history or mother's age above 35 year.
• Before and during pregnancy, mother should take vaccinations to protect herself and child. Other medical tests should also be completed.
• Expecting couple should take adequate counselling time to time from the doctor or counsellor about the control of weight gain and other diseases like diabetes and blood pressure.
• Mother should keep her away from any exposure to imaging rays, radiations or self-medication.
Congenital diseases are the complex interplay of some factors that include genetic factors, environmental factors and our behaviours towards life. Genetic factors are the gene that consists of the information about how body develops and its functioning. These are inherited from both parents. In each gene pair, dominant will precede over the recessive one. There are many birth defects that follow this mode of inheritance such as Marfan syndrome, dwarfism, Huntington's disease, glaucoma, and polydactyly. Inherited genetic information is random. Hence, genetic factors cannot be controlled.
2
Place a check next to the correct answers:
Select all the correct statements concerning cerebral palsy.
________a. It is caused by central nervous system damage before birth.
________b. It may be spastic, athetoid, and ataxic.
________c. A neurologic assessment is the first common diagnostic tool.
________d. The condition is curable.
________e. b and c.
Select all the correct statements concerning cerebral palsy.
________a. It is caused by central nervous system damage before birth.
________b. It may be spastic, athetoid, and ataxic.
________c. A neurologic assessment is the first common diagnostic tool.
________d. The condition is curable.
________e. b and c.
Cerebral palsy refers to the serious movement disorder in the early childhood. The three types of CP are spastic, athetoid, and ataxic.
Hence, the correct option is
.
Cerebral palsy is caused by central nervous system damage that can occur before, during and even after birth. Thus, option "a" is incorrect.
A neurologic assessment is necessary but not the first common diagnostic tool for cerebral palsy. Thus, options "c" and "e" is incorrect.
Cerebral palsy cannot be cured, but can be treated to improve physical strength. Thus, option "d" is incorrect.
Hence, the correct option is

Cerebral palsy is caused by central nervous system damage that can occur before, during and even after birth. Thus, option "a" is incorrect.
A neurologic assessment is necessary but not the first common diagnostic tool for cerebral palsy. Thus, options "c" and "e" is incorrect.
Cerebral palsy cannot be cured, but can be treated to improve physical strength. Thus, option "d" is incorrect.
3
The two types of orofacial clefts are __________________and ________________________.
The two types of orofacial clefts are cleft lip and cleft palate.
Orofacial clefts are congenital defects (birth) where mouth or roof of mouth do not form appropriately.
Cleft lip includes separation of two sides of lip as the maxillary and median nasal processes fail to fuse thus, forming a fissure in the lip.
Cleft palate is a result of congenital failure of two sides of palate to fuse properly forming a grooved depression in the roof of mouth.
Orofacial clefts are congenital defects (birth) where mouth or roof of mouth do not form appropriately.
Cleft lip includes separation of two sides of lip as the maxillary and median nasal processes fail to fuse thus, forming a fissure in the lip.
Cleft palate is a result of congenital failure of two sides of palate to fuse properly forming a grooved depression in the roof of mouth.
4
Circle the correct answer:
T F Spina bifida occulta is the least common neural tube defect.
T F Spina bifida occulta is the least common neural tube defect.
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5
Discuss the difficulty that arises in prevention of fetal alcohol syndrome. How might health-care providers lessen the abuse of alcohol in pregnant women
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6
Place a check next to the correct answers:
Select all the correct signs and symptoms of cystic fibrosis.
____________a. Intestinal obstruction
____________b. Vomiting
____________c. Constipation
____________d. Wheezy respirations
____________e. Dry cough
____________f. Dyspnea
____________g. Tachypnea
____________h. Electrolyte imbalance
____________i. Inability to absorb fats
____________j. Deficient insulin
Select all the correct signs and symptoms of cystic fibrosis.
____________a. Intestinal obstruction
____________b. Vomiting
____________c. Constipation
____________d. Wheezy respirations
____________e. Dry cough
____________f. Dyspnea
____________g. Tachypnea
____________h. Electrolyte imbalance
____________i. Inability to absorb fats
____________j. Deficient insulin
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7
The characteristic symptom in pyloric stenosis is________.
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8
Circle the correct answer:
T F Hirschsprung disease is called congenital aganglionic megacolon.
T F Hirschsprung disease is called congenital aganglionic megacolon.
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9
Place a check next to the correct answers:
Cleft lip and palate
____________a. May occur singly or together and vary in severity.
____________b. Occurs in 1 in 10,000 births.
____________c. Does not require any special feeding techniques.
____________d. Is usually corrected in one surgery.
Cleft lip and palate
____________a. May occur singly or together and vary in severity.
____________b. Occurs in 1 in 10,000 births.
____________c. Does not require any special feeding techniques.
____________d. Is usually corrected in one surgery.
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10
TEF is the abbreviation used for__________
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11
Circle the correct answer:
T F In an infant with cryptorchidism, the testes generally will descend within the first year of life.
T F In an infant with cryptorchidism, the testes generally will descend within the first year of life.
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12
Place a check next to the correct answers:
An omphalocele
____________a. Is a birth defect in which the umbilical cord comes out the navel.
____________b. Seems to occur more frequently with advanced maternal age.
____________c. May be detected prior to birth through ultrasound.
____________d. Is surgically repaired.
An omphalocele
____________a. Is a birth defect in which the umbilical cord comes out the navel.
____________b. Seems to occur more frequently with advanced maternal age.
____________c. May be detected prior to birth through ultrasound.
____________d. Is surgically repaired.
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13
What does PKU stand for ___________Describe the treatment.
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14
Circle the correct answer:
T F The prognosis of pyloric stenosis is excellent after surgical repair.
T F The prognosis of pyloric stenosis is excellent after surgical repair.
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15
Place a check next to the correct answers:
Fetal alcohol syndrome
____________a. Is the result of the mother being addicted to street drugs.
____________b. Exhibits very few symptoms in a child.
____________c. Creates potentially long-term complications for a child.
____________d. Is totally preventable.
Fetal alcohol syndrome
____________a. Is the result of the mother being addicted to street drugs.
____________b. Exhibits very few symptoms in a child.
____________c. Creates potentially long-term complications for a child.
____________d. Is totally preventable.
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16
Name at least three congenital defects of the ureter, bladder, and urethra:
a.
b.
c.
a.
b.
c.
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17
Circle the correct answer:
T F Hydrocephalus is defined as too little cerebrospinal fluid in the brain ventricles.
T F Hydrocephalus is defined as too little cerebrospinal fluid in the brain ventricles.
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18
List the four most common forms of clubfoot or talipes:
a.
b.
c.
d.
a.
b.
c.
d.
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19
List the three forms of congenital hip dysplasia:
a.
b.
c.
a.
b.
c.
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20
Another name for Down syndrome is__________________________
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21
Nathan, who was born with a cleft lip and palate, is abandoned by his drug-dependent mother and unknown or unidentified father shortly after birth. Social services personnel place the infant in a foster home where the caregivers have experience with special needs children. In a short time, specialists rule that surgery is necessary. After three operations, Nathan's congenital defect is very difficult to detect.
What might have happened if Nathan's mother had kept him
What might have happened if Nathan's mother had kept him
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22
Alison and Jordan are considering having their first child. Close friends of theirs have a child who was born with serious heart defects. They have some fears about birth defects and the costs of any necessary treatment.
What resources could you recommend for them to read
What resources could you recommend for them to read
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23
Match each of the following definitions with its correct term: Spinal cord defects


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24
Nathan, who was born with a cleft lip and palate, is abandoned by his drug-dependent mother and unknown or unidentified father shortly after birth. Social services personnel place the infant in a foster home where the caregivers have experience with special needs children. In a short time, specialists rule that surgery is necessary. After three operations, Nathan's congenital defect is very difficult to detect.
What future complications might Nathan's caregivers anticipate
What future complications might Nathan's caregivers anticipate
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25
Alison and Jordan are considering having their first child. Close friends of theirs have a child who was born with serious heart defects. They have some fears about birth defects and the costs of any necessary treatment.
Would you advise that they speak to a specialist
Would you advise that they speak to a specialist
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26
Alison and Jordan are considering having their first child. Close friends of theirs have a child who was born with serious heart defects. They have some fears about birth defects and the costs of any necessary treatment.
How might they research their health-care insurance coverage
How might they research their health-care insurance coverage
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27
Match each of the following definitions with its correct term:
Congenital defects of the heart

Congenital defects of the heart


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