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NURS 875: Pediatrics > Genetic Conditions > Flashcards

Genetic Conditions Flashcards

1
Q

Cause: Down syndrome

A

Trisomy 21

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2
Q

Cause: Klinefelter syndrome

A
  • typically XXY
  • can also have additional X chromosomes and more extreme symptoms
  • can also have only some cells with extra X chromosomes, and less severe symtpoms (“mosaicism”)
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3
Q

Cause: Turner syndrome

A

XO (missing X chromosome)

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4
Q

Cause: Tay Sachs Disease

A

only in Ashkenazi Jewish people

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5
Q

Name: Monosomy X

A

Turnery Syndrome

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6
Q

Name: Trisomy 18

A

Edwards Syndrome

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7
Q

Name: Trisomy 21

A

Down Syndrome

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8
Q

Major cardiac concerns with Marfan syndrome

A

mitral valve prolapse aortic root dilation

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9
Q

physical characteristics typical of Down Syndrome

A
  • microcephaly
  • flattened nose
  • appearance of wide-set eyes d/t flattened nose
  • protruding tongue
  • inner epicanthal folds
  • upward slanting eyes (upward slanting palpebral fissures)
  • small mouth
  • small ears
  • short broad hands/fingers
  • single palmar crease
  • delayed growth/development
  • hypotonia
  • brushfield spots
  • deep plantar groove between 1st and 2nd toes
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10
Q

term for single palmar crease

A
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11
Q

name this phenomenon

A

Brushfield spots

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12
Q

describe the epicanthal folds in a child with Down Syndrome

A

upper eyelid skin fold covers inner corner of eye

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13
Q

Medical Concerns with Down Syndrome

A
  • obesity
  • leukemia
  • early dementia
  • hearing/vision impairment
  • seizures
  • congenital heart disease
  • endocrine abnormalities (diabetes, Thyroid disease)
  • esophageal/duodenal atresia
  • atlanto-axial instability (C1/C2)
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14
Q

key physical findings with Down Syndrome

A
  • hypotonia
  • Brushfield spots
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15
Q

What are the implications for hypotonia with Down Syndrome?

A
  • difficulty with feeding (suck and swallow)
  • risk for constipation
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16
Q

Who should be offered genetic evaluation?

A
  • advanced PARENTAL age (over 35)
  • miscarriage history
  • fhx of genetic defects or MR
  • maternal medications, drug use
  • certain ethnic groups
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17
Q

INCIDENCE: Down Syndrome

A

1:660

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18
Q

What is Atlanto-Axial instability?

Who is at higher risk for this, and what are the implications?

A

neck instability between C1 and C2

get an X-ray of C-spine during sports physical, as this can make the neck in Down’s Syndrome patients less stable than others

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19
Q

INCIDENCE: Klinefelter syndrome

A

1:1000 males

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20
Q

When does Klinefelter syndrome present?

A
  • typically puberty
  • sometimes for workup for infertility
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21
Q

Physical features of Klinefelter syndrome

A
  • hypogonadism
  • underdeveloped secondary sex characteristics
  • less body hair
  • tall stature
  • abnormal proportions
    • wide hips
    • long legs
  • gynecomastia
  • learning disability
  • personality impairment
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22
Q

Medical Concerns with Klinefelter syndrome

A
  • infertility
  • osteoporosis
  • autoimmune disorders (e.g. lupus)
  • learning disabilities (e.g. ADHD, dyslexia)
  • autism spectrum disorders
  • depression
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23
Q

When does Turner syndrome present?

A
  • often during genetic screening
  • during anatomy ultrasound in utero (fluid/webbing of neck)
  • but can be during physical exam
24
Q

INCIDENCE: Turner syndrome

A

1:2000 (half as common as Klinefelter syndrome)

25
Q

Key medical issues with Turner syndrome

A
  1. COA = coarctation of aorta
  2. bicuspid aortic valve
  3. hypertension

**many times, we find COA and it leads us to Turner syndrome

26
Q

Physical features of Turner syndrome

A
  • lymphedema
  • more “coarse” features
  • webbed neck
  • low hairline
  • learning disabilities
  • lack of secondary sex characteristics
  • shield shaped chest; widely-spaced nipples
  • head/neck abnormalities
27
Q

Major concern with Marfan syndrome

A
  • aortic aneurysm
  • aortic regurgitation
  • mitral valve prolapse
28
Q

Physical characteristics of Marfan syndrome

A
  • tall
  • wide arm span (exceeds height)
  • long narrow face
  • pectus carinatum or excavatum
  • hyperextension of joints
  • genu recurvatum
  • kyphoscoliosis
  • high arched narrow palate
  • dislocated lens (ectopia lentis)
  • iridodonesis (lens of eye moves/vibrates with eye movement)
29
Q

Who is at risk for Marfan syndrome and why?

A

descendants and parents of patients with Marfan syndrome; it is an inherited autosomal dominant disorder (that does not skip generations)

30
Q

What can cause palpitations with Marfan syndrome?

A

mitral valve prolapse or regurgitation

31
Q

Medical concerns with Marfan syndrome

A
  • detatched retina
  • dislocated lens
  • aortic aneurysm
  • aortic regurgitation –> cardiomyopathy –> heart failure
  • mitral valve prolapse
  • mitral valve regurgitation
  • spontaneous pneumothorax
32
Q

INCIDENCE: Marfan syndrome

A

1:10,000 - 1:20,000

33
Q

INCIDENCE: Tay-Sachs Disease

A

1:2500 live births

34
Q

What groups of people are more commonly affected by Tay-Sachs Disease?

A
  • Ashkenazi Jews
  • French-Canadians
35
Q

When does Tay Sachs disease commonly present? How does it present?

A

3-6 months (normal at birth) with loss of muscle tone

36
Q

Typical progression of Tay-Sachs Disease

A
  1. decreased muscle tone
  2. cherry red macula
  3. listlessness
  4. blindness
  5. deafness
  6. seizures
  7. dementia
  8. vegetative state
  9. death
37
Q

What is a cherry red macula and how is it found?

A
  • found via fundoscopic exam
  • concentrated red spot on the macula (in the eye)
38
Q

What is VCF?

A

Velocardiofacial Syndrome (DiGeorge Syndrome)

39
Q

What does DiGeorge Syndrome affect?

A
  1. thymus
  2. parathyroid
  3. conotrncal region of heart
40
Q

What is the genetic issue with DiGeorge Syndrome?

A

22q11.2 deletion

41
Q

Why are patients with DiGeorge Syndrome at an increased risk of infection?

A

thymus aplasia (failure to develop normally)

42
Q

physical characteristics of DiGeorge Syndrome

A
  • lateral displacement of inner canthi
  • short plapebral fissures (short eye openings)
  • long face
  • enlarged (bulbous) nose tip
  • short or flattened philtrum
  • micrognathia (lower jaw smaller than normal)
  • ear anomalies
  • cleft palate, possibly cleft lip
43
Q

What causes an infant with DiGeorge Syndrome to have seizures?

A

hypoparathyroidism with hypocalcemia

44
Q

Major medical concerns with DiGeorge Syndrome

A
  • cardiac abnormalities
  • seizures due to hypocalcemia from hypoparathyroidism
45
Q

What causes DiGeorge syndrome?

A
  • deletion of portion of chromosome 22
  • usually spontaneous
  • rarely inherited
46
Q

Name some cognitive/behavioral problems associated with DiGeorge Syndrome

A
  • autism spectrum disorder
  • ADHD
  • depression and anxiety later in life
  • developmental delays
  • learning disabilities
47
Q

Name 3 cardiac defects associated with DiGeorge Syndrome

A
  • VSD
  • Tetralogy of Fallot
  • truncus arteriosus (one large vessel leading out of heart (as opposed to separate aorta and pulmonary arteries – no clear path from RV to lungs or from LV to aorta…blood from both ventricles mixes and goes to both pulmonary artieries and aorta)
48
Q

Most common genetic cause for obesity

A

Prader-Willi Syndrome

49
Q

common symptoms of Prader-Willi Syndrome in infants

A
  • hypotonia
  • girls: underdeveloped/hypoplasia of labia minora/clitoris
  • boys: small penis, undescended testes
  • narrow temples and nasal bridge
  • almond shaped eyes
  • mild strabismus
  • thin upper lip
  • downturned mouth
50
Q

DEFINE: mosiacism

A
  • 2+ genetically different cells in the body (e.g. Klinefelter XXY in some cells but not all)
  • symptoms are typically less than if all the cells had a genetic defect
51
Q

5p- (5p minus) syndrome is also known as…

A

Cri-du-chat syndrome

52
Q

symptoms of Cri-du-chat syndrome

A
  • “cat’s cry” syndrome: high-pitched cry, sounds like that of a cat
  • intellectual disability
  • delayed development
  • small head size (microcephaly)
  • low birth weight
  • weak muscle tone (hypotonia)
  • distinctive facies:
    • widely set eyes (hypertelorism)
    • low-set ears
    • a small jaw
    • a rounded face
  • congenital heart defects (VSD, PDA, ASD)
53
Q

LIFE EXPECTANCY with Edwards Syndrome

A
  • lethal for most babies
  • 20-30% die w/in 1 month
  • very few children survive beyond 1st year (5-10%)
54
Q

Symptoms of Edwards Syndrome

A
  • physical abnormalities
    • weak, fragile
    • underweight
    • microcephaly
    • malformed and low-set ears
    • small mouth and jaw (micrognathia)
    • cleft lip or palate
    • clenched hands, index finger overlapping others
    • clubfeet, toes webbed or fused
  • severe mental retardation
55
Q

Internal Organ Abnormalities with Edwards Syndrome

A
  • criptochrodism (undescended testes)
  • congenital heart disease
  • umbilical or inquinal hernia
  • malformed kidneys
56
Q

Describe this floppy baby

A

hypotonia

57
Q

Complications/things to monitor in a patient with Down Syndrome

A
  • CBC (risk for anemia, leukemia)
  • heart (risk for congenital defects)
  • MSK (atlanto-axial instability)
  • endocrine (thyroid, diabetes)
  • gastrointestinal atresias
  • cataracts
  • otitis media
  • hip dislocation
  • OSA

NURS 875: Pediatrics (12 decks)

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