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Genetic and Developmental Disorders Flashcards

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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
Long shaped skull with frontal bossing, sternum defects, hyperextensibility of joints, kyphoscoliosis, and arachnodactyly are features of what?
Marfan syndrome
26
Cardiovascular, ocular, and oral symptoms are additional features of what?
Marfan syndrome
27
_____ is a collagen disorder.
Ehlers-Danlos syndrome
28
What Ehlers-Danlos syndrome subtype is most severe?
EDS VI
29
Hyperelasticity of skin, fragile skin, extreme laxity of joints, mitral valve prolapse, aortic aneurysm, occasional blue sclera are clinical features of what?
Ehlers-Danlos syndrome
30
Periodontal disease, fragile gingiva, TMJ disloation, hypermobile tongue are oral symptoms of what?
Ehlers-Danlos syndrome
31
Cafe-au-lait spots are associated with?
neurofibromatosis type I
32
Lisch ndules are associated with what?
neurofibromatosis type I
33
Bilateral and unilateral acoustic neuromas are associated with what?
neurofribromatosis type II
34
Sickle cell anemia, cystic fibrosis, albinism, lysosomal storage diseases (Gaucher disease, tay-sachs disease, and Hurler syndrome) are examples of what?
autosomal recessice single gene abnormalities
35
What is associated with structural defects in hemoglobin?
sickle cell anemia
36
Sudden acute episodes of bone pain/ischemia/infarct (tissue damage), acute chest syndrome, stroke, and blindness are associated with ?
sickle cell anemia
37
____ is the most common AR in white people and ____ is the most common AR in black people.
cystic fibrosis, sickle cell anemia
38
_____ affects chloride anion secretion.
cystic fibrosis
39
Bronchiolitis, bronchiectasis, Cor pulmonale, chronic pancreatitis, and seconfary biliary cirrhosis are clinical features of what?
cystic fibrosis
40
Enamel opacities, hypoplastic defects. reduced caries incidence are oral features of what?
cystic fibrosis
41
What disease has increased risk for squamous cell carcinoma?
Albinism
42
Translucent irises is a feature of what disease?
Albinism
43
A group of disorders that lack lysosomal enzymes is called?
lysosomal storage diseases
44
If a patient is not able to digest complex molecules and has an accumulation of metabolites, they might have what type of disease?
lysosomal storage disease
45
What is the most common lysosomal storage disease?
Gaucher disease
46
Accumulation of glycosylceramide (lipid) in gaucher cells is the pathology of what disease?
gaucher disease
47
What is the principally affected site in Gaucher diesease?
spleen
48
Painless splenomegaly, anemia, and bone pain are associated with what type of Gaucher disease?
Type I (Ashkenazi Jews)
49
What type of Gaucher disease affects CNS?
Types II and III
50
Accumulation of gangliosides (lipid) in brain is the pathology for what disease?
Tay-Sachs Disease
51
What population is most affected by Tay-Sachs?
Ashkenazi Jews
52
Weakness, hypotonia, rapid progressive motor/mental deterioration, seizures, and blindness are features of what disease?
Tay-Sachs
53
Most children with ______ die by age 4.
Tay-Sachs
54
In ____ diseases males are always hemizygous and always express trait.
X-linked dominant
55
What type of disease is Familial hypophosphatemic rickets (vitamin D resistant)?
X-linked dominant
56
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?
Familial Hypophosphatemic Rickets
57
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.
True
58
Colorblindness, Fragile X syndrome, Muscular Dystrophy, and Hemophilia are examples of what kind of disease?
X-linked Recessive
59
What is the most common inherited mental retardation disorder?
Fragile X syndrome
60
The Sherman paradox (increased frequency with successive generations) is associated with what disease?
Fragile X syndrome
61
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?
Fragile X syndrome
62
Chromosome disorders are called?
cytogenic disorders
63
____ is often found with aggressive cancers.
aneuploidy
64
What is the most common cause of congenital retardation?
Down syndrome
65
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?
Down syndrome
66
When males have atleast 2X and 1 or more Y?
Klinefelter Syndrome
67
Barr body is associated with what disease?
Klinefelter syndrome
68
Partial or complete monosomy of X chromosome is associated with what disease?
Turner Syndrome
69
Sexually immature females and dissecting aneurysms are associated with what disease?
Turner Syndrome
70
True or False? Non-mendelian inheritance does not involve sex chromosomes.
True
71
Deletion of paternal genes is what?
Prader Wili syndrome
72
Deletion of maternal genes is what?
Angelman syndrome
73
Deeply set eyes, mandibular prognathism, macrostomia, protrusion of tongue, and spacing of teeth are associated with what?
Angelman syndrome
74
____ is a disease process resulting from interaction of more than 1 gene and environmental factors.
Multifactorial Inheritance
75
What is a hemolytic disorder of fetus or newborn (Rh incompatibility)?
Erythroblastosis fetalis
76
What is overgrowth of normal tissue in a normal site?
Hamartoma
77
What is most frequent benign tumor in childhood?
Hemangioma
78
What is congenital, rapid growth, overgrowth of lymphatic channels?
Lymphangioma
79
What is aggregates of normal tissue in abnormal location?
Choristoma
80
What is the most common solid tumor in newborns?
Sacrococcyeal teratoma

Pathology (17 decks)

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