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PNP study cards > Genetic Disorders & Inborn Errors Of Metabolism > Flashcards

Genetic Disorders & Inborn Errors Of Metabolism Flashcards

1
Q

Marfan syndrome is an autosomal ______ disorder

What gene defect is associated with Marfan syndrome?

A

Autosomal dominant

The gene defect has been mapped to a region on chromosome 15 that codes for fibrillin

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2
Q

What are the clinical features of Marfan syndrome?

Skeletal findings:

Occular findings:

Cardiovascular findings:

A
  • Skeletal findings: tall stature with elongated extremities and long fingers, long narrow, face, hyper extension of joints, high arched narrow palate
  • Occular findings: ectopia lentis, irdodonesis, upward lens subluxation
  • Cardiovascular findings: Aortic regurgitation, mitrial valve prolapse, Aortic route dilatation (aneurysm)
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3
Q

What disorder has many of the same clinical features as Marfan’s syndrome and must be ruled out

A

Homocystinuria

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4
Q

What are some complications of marfan’s syndrome?

A

Endocarditis, retinal detachment, and sudden death as a result of aortic dissection

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5
Q

What are some clinical features of Prader-Willi syndrome?

A

crazy appitie and obesity

  • Craniofacial: Almond-shaped eyes; fishlike mouth
  • hypotonia, Failure to thrive;
  • obesity as a result of hyperphagia later in childhood
  • short stature, mental retardation, DD, behavior problems
  • Hypogonadism
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6
Q

What is Noonan syndrome?

A

“male version of Turner syndrome”

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7
Q

What are the clinical features of Noonan syndrome?

A
  • Short stature and a shield chest
  • Short webbed neck and low hairline
  • Right-sided heart lesions, most commonly pulmonary valve stenosis
  • Mental retardation in 25%
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8
Q

What two distinct syndromes have a deletion at chromosome 22q11?

A

DiGeorge syndrome

Velocardiofacial syndrome

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9
Q

What is CATCH-22?

A

A name describing the features of 22q11 deletions

  • Cardiac anomaly
  • Abnormal facies
  • Thymic hypoplasia
  • Cleft palate
  • Hypocalcemia
  • Gene defect on chromosome 22
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10
Q

DiGeorge syndrome is caused by a defect in the structures derived from the ____ and _____ pharyngeal pouches

A

third and fourth

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11
Q

THymus and parathyroid hypoplasia in DiGeorge syndrome cause…

A

cell-mediated immunodeficiency and severe hypocalcemia

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12
Q

What is osteogenesis imperfecta?

A

Results from mutations that cause production of abnormal type I collagen

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13
Q

What are the clinical features of Type I Osteogenesis Imperfecta?

A
  • Blue sclerae
  • Skeletal findings such as fragile bones
  • Yellow or gray-blue teeth
  • Easy bruisability
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14
Q

Pierre Robin syndrome clinical features?

A

Micrognathia, cleft lip and palate, and a large protruding tongue

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15
Q

What is the most common trisomy syndrome?

A

Down syndrome (trisomy 21)

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16
Q

What is the second most common trisomy syndrome? It is three times more common in ________

A

Trisomy 18; females

17
Q

________ is 20 times more common in Down Syndrome than in general population

A

Leukemia

18
Q

How are trisomy syndromes diagnosed?

A

Chromosomal analysis

19
Q

What are the clinical features of Turner syndrome?

A

XO — only female

  • Short stature
  • Webbed neck
  • Shield chest
  • Swelling of the dorsum of hands and feet
  • pubertal delay - Ovarian dysgenisis
  • lymphedema, low hairline, learning issues, low ears
  • heart: bicuspid aorta, coar of aorta
  • hearing loss and eye issues
20
Q

What cardiac effects are associated with Turner syndrome?

A
  • Left-sided heart lesions
  • Coarcatation of the aorta
  • Bicuspid aortic valve
  • Hypoplastic left heart
21
Q

Fragile X syndrome is an X-linked disorder caused by a site on the X chromosome that contains a variable number of ____ repeats

A

CGG

22
Q

What type of inheritance pattern is associated with Fragile X syndrome?

A

inherited, no spontanous mutation

23
Q

What is the most common inherited cause of mental retardation?

A

Fragile X syndrome

boys > girls because they only have one X

24
Q

What are some clinical features of Fragile X syndrome?

A
  • Mild to severe mental retardation
  • Large ears
  • Large testes develop during puberty
  • Emotional instability
25
Q

What is the most common cause of male hypogonadism and infertility?

A

Klinefelter syndrome (XXY)

26
Q

What are the clinical features of Klinefelter syndrome?

A

Normal at birth and presents in puberty

  • Tall stature with long extremities
  • Hypogonadism (INFERTILITY)
  • Gynecomastia
  • Variable intelligence
  • Antisocial behavior; excessive shyness or agression
27
Q

What is the most common teratogen?

A

Alcohol

28
Q

What are some features of fetal alcohol syndrome?

A
  • Small-for-gestational age at birth
  • FTT
  • Microcephaly
  • Long smooth philtrum with a thin, smooth upper lip
  • Mental retardation, ADHD, and cardiac defects
29
Q

Pick the IEM that goes with the following odors:

  • Mousey/musty:
  • Sweet maple syrup:
  • Sweaty feet:
  • Rotten cabbage:
A
  • Mousey/musty: Phenylketonuria
  • Sweet maple syrup: Maple syrup disease
  • Sweaty feet: Isovaleric or glutaric acidemia
  • Rotten cabbage: Hereditary tyrosinemia
30
Q

Ammonia is toxic to the ____ and _____

A

brain and liver

31
Q

What type of inheritance is associated with galactosemia? What enzyme is deficient?

A

Autosomal recessive

Galactose-1-phosphate uridyltransferase deficiency

32
Q

Galactosemia should be suspected in any newborn with ________ and _______

A

hepatomegaly and hypoglycemia

33
Q

What are some clinical features of galactosemia?

A
  • Vomiting, diarrhea, and FTT
  • Hepatic dysfunction with hepatomegaly
  • Cataracts with oil-droplet appearance
  • Renal tubular acidosis
34
Q

Tay-Sachs disorder is an autosomal ______ disorder caused by ____________ deficiency

A

Recessive; hexosaminidase A

35
Q

What are the clinical features of Tay Sach’s disease?

A
  • normal at birth, decline at 3 to 6 months
  • Hyperacusis (increases sensitivity to sound) –> spastic
  • progressive hypotonia
  • Macrocephaly
  • Cherry red macula
  • Progressive blindness, seizures
  • Severe developmental delay

Ashkenazic Jew pop

36
Q

Juvenile or adult-onset Tay sachs disease has the same clinical features as the infantile form except for…

A

cherry red macula

37
Q

Infantile Tay-Sachs disease is untreatable and death occurs by ___ years

A

4

PNP study cards (14 decks)

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