Structural Abnormalities and Birth Defects

Question 1

Structural or functional abnormality in development present at birth.

Answer 1

Congenital anomaly (birth defect)

Question 2

Irregular, anomalous, abnormal, or faulty formation or structure.

Answer 2

Malformation

Question 3

Resulting from maternal mechanical factors

Answer 3

Congenital deformation

Question 4

Resulting from abnormal embryologic development, usually genetic.

Answer 4

Congenital malformation

Question 5

Chromosomal
Congenital disorders
Birth trauma
Specific birth defects

Answer 5

Causes of abnormalities

Question 6

Hereditary factors received from ancestors passed genetically to offspring. Form strand of DNA and associated proteins in the nucleus of eukaryotic cells. Composed of thousands of genes located at specific positions within this, function in the transmission of hereditary information.

Answer 6

Chromosomes

Question 7

How many chromosomes does each individual have?

Answer 7

46 (23 pairs)

Question 8

Determine body functions and appearance (eye and hair color, for example). There are 22 pairs of these (44 total).

Answer 8

Autosomal Chromosomes

Question 9

Determine the sex of an individual. There are 2 of these (1 pair).
females- XX
makes- XY

Answer 9

Sex Chromosomes

Question 10

True or false?

All somatic (body) cells have 46 chromosomes; reproduce by mitosis; divide into identical daughter cells, each with 46 chromosomes.

Answer 10

True

Question 11

These cells have 46 chromosomes; reproduce by meiosis, and result in gametes.
Ovum- 23 chromosomes
Sperm- 23 chromosomes

Answer 11

Germ (sex) cells

Question 12

Formed by pairing of genes

Answer 12

Alleles

Question 13

Both genes are dominant, or both genes are recessive.

Answer 13

Homozygous alleles

Question 14

One gene is dominant, the other is recessive

Answer 14

Heterozygous alleles

Question 15

Too few chromosomes present.

Answer 15

Monosomy

Question 16

Too many chromosomes present.

Answer 16

Trisomy

Question 17

Lacking one X chromosome (44 autosomes and one X chromosome) and is clinically a female. Have a short, broad chest with underdeveloped breasts, cardiac malformations, ovaries, uterus. Sexually immature, infertile, and mental retardation is common (but with hormone replacement, normal intelligence and life).

Answer 17

Turner’s Syndrome

Question 18

2X plus 1Y chromosome (too many sex chromosomes), is clinically a male. Usually sterile, underdeveloped prostate, testes, no facial hair, enlarged breasts, large hands and feet, long arms and legs.

Answer 18

Klinefelter’s Syndrome

Question 19

Trisomy 21, three copies of chromosome 21 (too many autosomes)

mental retardation, short and curved 5th finger, characteristic facial appearance (flat nasal bridge, low-set ears, slanted eyes, heart defects).

Answer 19

Down’s Syndrome

Question 20

Trisomy 18 - three copies of chromosome 18 (too many autosomes)

usually fatal within 3 months due to multiple congenital defects, cleft lip and palate, severe mental and motor retardation.

Answer 20

Edward’s syndrome

Question 21

Trisomy 13- three copies of chromosome 13 (too many autosomes)

physical abnormalities: microcephaly, polydactyly, syndactyly, heart defects
generally death in infancy

Answer 21

Patau Syndrome

Question 22

Anything that adversely affects normal cellular development in the embryo or fetus, can damage fetal or ovarian DNA inducing congenital fetal malformation.

examples: infectious agents, radiation and other factors

Answer 22

Teratogen

Question 23

group of symptoms and birth defects in infants born to mother who consumed alcohol/narcotics during pregnancy.

includes mental challenges, decreased physical development, hyperactivity, microcephaly

Answer 23

Fetal alcohol/ fetal narcotic syndrome

Question 24

group of infections acquired by women during pregnancy and transmitted to the child in the womb. 3-9 week of pregnancy exposure may result in the baby’s death or serious complications.

Answer 24

TORCH teratogens

Question 25

TO-xoplasmosis R-ubella (german measles) C-ytomegalovirus (CMV) H-erpes virus

Answer 25

TORCH teratogens

Question 26

Rubella virus crosses the placenta to the fetus, causes microcephaly, learning disorders, deafness, and heart defects.

Answer 26

Congenital rubella syndrome

Question 27

radiation nutritional deficiencies condition of the mother (age, fluid retention and poor diet, hormonal imbalance, physical injury, maternal radiation, infection, metabolic disorders, drugs and medications)

Answer 27

Etiology of congenital disorders

Question 28

Physical or psychological injury sustained by an infant during birth -infections (gonorrhea, herpes in birth canal), physical trauma, lack of oxygen, umbilical cord strangulation

Answer 28

Birth Trauma

Question 29

Grossly deformed fetus -conjoined twins, parasitized fetus

Answer 29

Monsters

Question 30

Abnormal development of epiphyseal cartilage - rare, short statue, disproportionately short arms and legs, large head and characteristic facial features - 80% have two parents of average height

Answer 30

Achondroplasia (hereditary dwarfism)

Question 31

Due to hypopituitarism (hyposecretion of growth hormone) -4' tall with normal body proportions, normal intelligence

Answer 31

Pituitary dwarfism

Question 32

Hypersecretion of growth hormone, enlarged bones of skull, arms and legs

Answer 32

Hyperpituitarism

Question 33

In children, up to 8' tall, normal body proportions, slower sexual development, mental development normal or retarded.

Answer 33

Giantism

Question 34

After closure of epiphyseal plate, thickening of soft tissue- enlarged lips, nose, tongue, thicker skin. May lead to congestive heart failure, respiratory or cerebrovascular problems.

Answer 34

Acromegaly

Question 35

A condition of having more than normal number of fingers or toes.

Answer 35

Polydactylism

Question 36

A condition of having two or more fused fingers or toes.

Answer 36

Syndactylism

Question 37

Absence of fingers and/or toes.

Answer 37

Adactylism

Question 38

Congenital condition in which the proximal portions of the limbs are poorly developed or absent. -Hands and/or feet are attached to the trunk directly

Answer 38

Phocomelia

Question 39

Congenital absence of one more more limbs.

Answer 39

Amelia

Question 40

Deformity of foot (bent inward); over calcification of bones of the foot; possibly genetic factors or fetal position.

Answer 40

Clubfoot

Question 41

Abnormality of hip joint; easy fractures due to hip dysplasia; caused by improper fetal or during birth position or maternal hormones; difference in leg length or asymmetrical folds on the affected thigh.

Answer 41

Dislocated hip

Question 42

Two sides of the palate fail to fuse during fetal development; results in opening (fissure) between palatine bones (roof of mouth). separate or in combination with cleft lip, related to hereditary factors, repaired surgically, more common in girls.

Answer 42

Cleft palate

Question 43

Separation of the two sides of the lip, may include bones of the upper jaw. -related to hereditary factors, repaired surgically

Answer 43

Cleft lip

Question 44

Short frenulum under the tongue; cause restriction of tongue motion > speech difficulty.

Answer 44

Tongue tie

Question 45

Closed sac in or under the skin containing fluid or semisolid mass.

Answer 45

Cyst

Question 46

Abnormal passage from internal organ to body surface or between two internal organs.

Answer 46

Fistula

Question 47

Connection between esophagus and trachea; life threatening.

Answer 47

Tracheo- esophageal fistula

Question 48

Fatal genetic disease (autosomal recessive) with defective transport of chloride. Affects exocrine glands causing secretion of thick mucous that obstructs body passageways (lungs and pancreas).

Answer 48

Respiratory and digestive cystic fibrosis

Question 49

Congenital deafness that results in inability to speak.

Answer 49

Deaf mutism

Question 50

Absence of or defect in the perception of colors. - sex linked recessive trait, usually in males.

Answer 50

Color blindness

Question 51

Eyes of different colors due to excess or lack of pigment within an iris; sex-linked.

Answer 51

Heterochromia

Question 52

Nearsightedness, longer eyeball, distant objects appear blurred.

Answer 52

Myopia

Question 53

Farsightedness, shorter eyeball, near objects appear blurred.

Answer 53

Hyperopia

Question 54

Clouded lens usually due to infection in utero.

Answer 54

Cataract

Question 55

Areas of excess melanin; usually more prominent when exposed to light.

Answer 55

Freckles

Question 56

Congenital vascular tumor (overgrowth of superficial blood vessels); usually on face, head, neck, arms.

Answer 56

Vascular nevus (birthmark= strawberry mark)

Question 57

Fish scale appearance with thickened overlapping skin layers.

Answer 57

Ichthyosis

Question 58

Excessive growth of terminal hair in areas not normally hairy; usually due to certain drugs (corticosteroids, diazoxide, minoxidil)

Answer 58

Hypertrichosis

Question 59

Less than normal amount of hair on head or body; due to hereditary hair follicle dysplasia, inflammation of infection of hair follicles, neoplastic destruction, irradiation.

Answer 59

Hypotrichosis

Question 60

Accessory nipples if the breast or elsewhere, cause unknown.

Answer 60

Polythelia

Question 61

More than two breast are present.

Answer 61

Polymastia

Question 62

Absence of breasts.

Answer 62

Amastia

Question 63

Failure of the skull bones to close. | no neural groove > no brain (anencephaly) or spinal cord; probably congenital.

Answer 63

Cranioschisis

Question 64

Abnormally small head and brain. Usually results in mental retardation, probably genetic.

Answer 64

Microcephaly

Question 65

Congenital absence of the brain (defect in development of the brain); absence of major portions of the brain (and spinal cord). The bones of the skull fail to develop > exposed brain is destroyed in the utero, infant will be stillborn or die shortly after birth.

Answer 65

Anencephaly

Question 66

Abnormal accumulation of cerebrospinal fluid in the ventricles of the brain. Results in swelling of the brain, caused by injury, infection, or disease.

Answer 66

Hydrocephalus

Question 67

Neural tube defect, one or more vertebrae fail to fuse (usually in the lumbar area)> leaving opening or weakness in vertebral column. possible causes: radiation, virus, genetic factors, folic acid deficiency.

Answer 67

Spina bifida

Question 68

Syndrome of four related defects of the heart and aorta, most commonly seen with intraventricular septal defect. Caused by fetal alcohol syndrome or thalidomide use during pregnancy. 1- narrowing of the pulmonary valve 2- thickening of the right ventricular wall 3- displacement of the aorta 4- ventricular septal defect

Answer 68

Tetralogy of fallout

Question 69

No heart forms.

Answer 69

Acardia

Question 70

Malposition of the heart; projects outside the ribcage.

Answer 70

Ectopia cordis

Question 71

Heart is on the right side of the chest.

Answer 71

Dextrocardia

Question 72

Underdevelopment of tissue, or organ of the body. Could be due to maternal diabetes or alcohol abuse.

Answer 72

Hypoplasia

Question 73

Failure of tissue or organ to develop normally.

Answer 73

Aplasia

Question 74

Two horns to the uterus (essentially two uteri)

Answer 74

Bicornuate uterus

Question 75

Containing both ovaries and testes.

Answer 75

Hermaphrodism (hermaphoditism)

Question 76

Congenital absence of closure of normal body opening.

Answer 76

Atresia

Question 77

Esophagus does not join the stomach

Answer 77

Esophageal atresia

Question 78

Narrowing of a passage

Answer 78

Stenosis

Question 79

Narrowing of larynx with possible blockage

Answer 79

Laryngeal stenosis

Question 80

Narrowing of pyloric valve, most common in first born male.

Answer 80

Pyloric stenosis

Question 81

In males, bladder drops and urethra opens at the back of the penis.

Answer 81

Hypospadia