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Genetic and Developmental Disorders Flashcards

1
Q

_____ is multiple anomalies related to a disorder.

A

syndrome

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2
Q

_____ promote developmental anomalies.

A

Teratogens

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3
Q

Name three facial malformations associated with Fetal Alcohol Syndrome.

A
  • small appearing eyes due to epicanthal folds
  • smooth philtrum
  • thin upper lip
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4
Q

What is the TORCH complex?

A 
Toxoplasmosis
Other
Rubella
Cytomegalovirus
Herpes type 2
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5
Q

What viruses and bacteria cause TORCH?

A

Viruses: varicella-zoster, HIV, Epstein-Barr, Zika
Bacteria: syphilis, tuberculosis, listeriosis, leptospirosis

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6
Q

What is complete lac of organ formation?

A

agenesis

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7
Q

What is immature-formed organ (rudimentary tissue)?

A

aplasia

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8
Q

What is reduced size?

A

hypoplasia

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9
Q

What is failure of opposed structures to fuse –> midline defect?

A

dysraphic anomaly

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10
Q

What is persistence of embryologic tissue?

A

involution failure

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11
Q

What is incomplete cleavage?

A

division failure

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12
Q

What is incomplete formation of lumen?

A

atresia

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13
Q

What is disorganized cell development?

A

dysplasia

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14
Q

What is organ development in an abnormal site?

A

ectopia (heterotopia)

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15
Q

What is normal tissue in an abnormal site?

A

choristoma

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16
Q

What is congenitally missing teeth?

A

hypodontia

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17
Q

CL, CP, bifid nose, low set ears, and thin upper lip are examples of what type of dysmorphic presentation?

A

hypertelorism

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18
Q

Low set ears may be associated with anomalies in what three areas?

A
  • kidneys
  • digestive tract
  • heart
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19
Q

Upslanting palpebral fissures is associated with ________.

A

Down Syndrome

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20
Q

Downslanting palpebral fissures are associated with _______.

A

Treacher Collins Syndrome

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21
Q

Familial Hypercholesterolemia, Marfan Syndrome, Ehlers-Danlos Syndrome, and Neurofibromatosis are examples of?

A

autosomal dominant single gene abnormalities

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22
Q

What is associated with elevated serum low-density lipoproteins (LDLs)?

A

familial hypercholesterolemia

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23
Q

Atherosclerosis, xanthomas, xanthelasma are features of?

A

familial hypercholesterolemia

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24
Q

What is caused by gene mutation encoding fibrillin and promotes abnormal connective tissue development?

A

Marfan syndrome

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25
Q

Long shaped skull with frontal bossing, sternum defects, hyperextensibility of joints, kyphoscoliosis, and arachnodactyly are features of what?

A

Marfan syndrome

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26
Q

Cardiovascular, ocular, and oral symptoms are additional features of what?

A

Marfan syndrome

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27
Q

_____ is a collagen disorder.

A

Ehlers-Danlos syndrome

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28
Q

What Ehlers-Danlos syndrome subtype is most severe?

A

EDS VI

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29
Q

Hyperelasticity of skin, fragile skin, extreme laxity of joints, mitral valve prolapse, aortic aneurysm, occasional blue sclera are clinical features of what?

A

Ehlers-Danlos syndrome

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30
Q

Periodontal disease, fragile gingiva, TMJ disloation, hypermobile tongue are oral symptoms of what?

A

Ehlers-Danlos syndrome

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31
Q

Cafe-au-lait spots are associated with?

A

neurofibromatosis type I

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32
Q

Lisch ndules are associated with what?

A

neurofibromatosis type I

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33
Q

Bilateral and unilateral acoustic neuromas are associated with what?

A

neurofribromatosis type II

34
Q

Sickle cell anemia, cystic fibrosis, albinism, lysosomal storage diseases (Gaucher disease, tay-sachs disease, and Hurler syndrome) are examples of what?

A

autosomal recessice single gene abnormalities

35
Q

What is associated with structural defects in hemoglobin?

A

sickle cell anemia

36
Q

Sudden acute episodes of bone pain/ischemia/infarct (tissue damage), acute chest syndrome, stroke, and blindness are associated with ?

A

sickle cell anemia

37
Q

____ is the most common AR in white people and ____ is the most common AR in black people.

A

cystic fibrosis, sickle cell anemia

38
Q

_____ affects chloride anion secretion.

A

cystic fibrosis

39
Q

Bronchiolitis, bronchiectasis, Cor pulmonale, chronic pancreatitis, and seconfary biliary cirrhosis are clinical features of what?

A

cystic fibrosis

40
Q

Enamel opacities, hypoplastic defects. reduced caries incidence are oral features of what?

A

cystic fibrosis

41
Q

What disease has increased risk for squamous cell carcinoma?

42
Q

Translucent irises is a feature of what disease?

43
Q

A group of disorders that lack lysosomal enzymes is called?

A

lysosomal storage diseases

44
Q

If a patient is not able to digest complex molecules and has an accumulation of metabolites, they might have what type of disease?

A

lysosomal storage disease

45
Q

What is the most common lysosomal storage disease?

A

Gaucher disease

46
Q

Accumulation of glycosylceramide (lipid) in gaucher cells is the pathology of what disease?

A

gaucher disease

47
Q

What is the principally affected site in Gaucher diesease?

48
Q

Painless splenomegaly, anemia, and bone pain are associated with what type of Gaucher disease?

A

Type I (Ashkenazi Jews)

49
Q

What type of Gaucher disease affects CNS?

A

Types II and III

50
Q

Accumulation of gangliosides (lipid) in brain is the pathology for what disease?

A

Tay-Sachs Disease

51
Q

What population is most affected by Tay-Sachs?

A

Ashkenazi Jews

52
Q

Weakness, hypotonia, rapid progressive motor/mental deterioration, seizures, and blindness are features of what disease?

53
Q

Most children with ______ die by age 4.

54
Q

In ____ diseases males are always hemizygous and always express trait.

A

X-linked dominant

55
Q

What type of disease is Familial hypophosphatemic rickets (vitamin D resistant)?

A

X-linked dominant

56
Q

What disease has the following features: bowing and shortening of long bones, hypodontia, delayed tooth eruption, premature loss of primary teeth, extreme bone loss and periapical infections, and short roots/enlarged pulp chambers?

A

Familial Hypophosphatemic Rickets

57
Q

True or False? Sons of female carrier have 50:50 chance of being symptomatic, daughter has a 50:50 chance of being a carrier in X-linked Recessive diseases.

58
Q

Colorblindness, Fragile X syndrome, Muscular Dystrophy, and Hemophilia are examples of what kind of disease?

A

X-linked Recessive

59
Q

What is the most common inherited mental retardation disorder?

A

Fragile X syndrome

60
Q

The Sherman paradox (increased frequency with successive generations) is associated with what disease?

A

Fragile X syndrome

61
Q

Increased head circumference, prominent supraorbital ridges, hyotelorism, long narrow face/chin, large ears, high arched palate, and mitral valve abnormalities are found in what disease?

A

Fragile X syndrome

62
Q

Chromosome disorders are called?

A

cytogenic disorders

63
Q

____ is often found with aggressive cancers.

A

aneuploidy

64
Q

What is the most common cause of congenital retardation?

A

Down syndrome

65
Q

Brushfield spots, simian creases, absences of middle phalange in 5th fingers, and wide gap between 2nd and 3rd toes are clinical features of what disease?

A

Down syndrome

66
Q

When males have atleast 2X and 1 or more Y?

A

Klinefelter Syndrome

67
Q

Barr body is associated with what disease?

A

Klinefelter syndrome

68
Q

Partial or complete monosomy of X chromosome is associated with what disease?

A

Turner Syndrome

69
Q

Sexually immature females and dissecting aneurysms are associated with what disease?

A

Turner Syndrome

70
Q

True or False? Non-mendelian inheritance does not involve sex chromosomes.

71
Q

Deletion of paternal genes is what?

A

Prader Wili syndrome

72
Q

Deletion of maternal genes is what?

A

Angelman syndrome

73
Q

Deeply set eyes, mandibular prognathism, macrostomia, protrusion of tongue, and spacing of teeth are associated with what?

A

Angelman syndrome

74
Q

____ is a disease process resulting from interaction of more than 1 gene and environmental factors.

A

Multifactorial Inheritance

75
Q

What is a hemolytic disorder of fetus or newborn (Rh incompatibility)?

A

Erythroblastosis fetalis

76
Q

What is overgrowth of normal tissue in a normal site?

77
Q

What is most frequent benign tumor in childhood?

A

Hemangioma

78
Q

What is congenital, rapid growth, overgrowth of lymphatic channels?

A

Lymphangioma

79
Q

What is aggregates of normal tissue in abnormal location?

A

Choristoma

80
Q

What is the most common solid tumor in newborns?

A

Sacrococcyeal teratoma

Pathology (17 decks)

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