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Paediatrics > Paediatric Genetics > Flashcards

Paediatric Genetics Flashcards

1
Q

What can multiple congenital anomalies occur due to?

A

Multiple congenital anomaly syndromes can occur:

  • Single gene disorders 30%
  • Chromosomal 10%
  • Teratogens 5%
  • Unknown 55%

These individually are rare, but common as a group

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2
Q

What is a syndrome?

A

Syndrome = pattern of clinical features occurring together

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3
Q

Multiple congenital anamaly syndromes - epidemiology

(prevalence of births)

A
  • 3% of all births
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4
Q

How many genes are there?

A

22,000

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5
Q

What is the diagnosis of rare genetic conditions done by?

A
  • History
  • Description
  • Recognition of patterns
  • Testing
    • Standard
      • Biochemical, chromosome structure (microarray standard)
    • Targeted testing
    • Moving to trio-based exome/genome
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6
Q

How do you describe a dysmorphic child?

A
  • Position and shape of facial features
    • Head – shape, size (macrocephaly, microcephaly), ear position (low set, posteriorly rotated)
    • Eyes – hypertelorism (eyes distant from each other), telecanthus/epicanthic folds
  • Hands (examples down syndrome, marfan syndrome)
    • Finger length
    • Digital abnormalities
    • Palmar creases
  • Growth of child
  • Growth features
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7
Q

What is the medical term for eyes distant from each other?

A

Hypertelorism

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8
Q

What is a malformation?

A

Can occur alone or part of a syndrome

Examples:

  • Polysyndactylty alone
    • Hox D13 one cause
  • Or acrocephalopolysyndatyly
    • Greig/GLI3
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9
Q

What are examples of malformation?

A
  • Polysyndactylty alone
    • Hox D13 one cause
  • Or acrocephalopolysyndatyly
    • Greig/GLI3
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10
Q

What is a sequence?

A

Is where one abnormality leads to another, can have multiple causes

Examples:

  • Pierre-Robin sequence
    • Small chin to cleft palate
  • Fetal akinesia sequence
    • Reduced fetal movement
    • Reduced breathing
    • Contractures
    • Clefting
    • Lung hypoplasia
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11
Q

What are examples of sequences?

A
  • Pierre-Robin sequence
    • Small chin to cleft palate
  • Fetal akinesia sequence
    • Reduced fetal movement
    • Reduced breathing
    • Contractures
    • Clefting
    • Lung hypoplasia
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12
Q

What is deformation and disruption?

A

Pattern of development normal to start with but becomes abnormal

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13
Q

What is the meaning of:

  • deformation
  • disruption
A

Deformation = organ parts there

Disruption = parts of organ/body missing

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14
Q

What is an example of a deformation and disruption?

A
  • Amniotic bands
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15
Q

What is an association?

A

Two features or more occur together more often than expected by change through an unclear mechanism

Examples are VATER:

  • Vertebral anomalies
  • Ano-rectal atresia
  • Tracheo-oesophageal fistula
  • Radial anomalies
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16
Q

What is an example of an association?

A

Examples are VATER:

  • Vertebral anomalies
  • Ano-rectal atresia
  • Tracheo-oesophageal fistula
  • Radial anomalies
17
Q

What is a syndrome?

A

A distinct group of symptoms and signs which, associated together, form a characteristic clinical picture or entity

18
Q

What are common syndromes?

A
  • Down syndrome (Trisomy 21)
  • Trisomy 13
  • Trisomy 18
  • Turner’s syndrome (45X)
19
Q

Down syndrome - aetiology

A
  • Trisomy 21
20
Q

Down syndrome - presentation

A
  • Learning disability
  • Congenital heart disease
  • Hypothyroidism
  • Immunity
  • Early onset Alzheimer disease
21
Q

Turner’s syndrome - aetiology

A
  • Genetic
    • 45, X
22
Q

Turner’s syndrome - features

A
  • Increased carrying angle, low hairline, wide sp nipples, sandal gap
  • Short stature
  • Occasionally mild learning disability
  • Coarctation of aorta, hypothyroidism, UTI, osteoporosis and hypertension
  • Primary amenorrhoea
23
Q

Turner’s syndrome - treatment

A
  • Hormonal therapy mitigates some features
24
Q

What ivnestigations are done for learning disability syndromes?

A
  • Microarray
  • Fragile X
  • Targeted tests driven by phenotype
  • Trio based exome vs trio-base genome analysis
    • Funding an issue
25
Q

What is an example of a learning disability syndrome?

A
  • 22q11 deletion
26
Q

22q11 deletion syndrome - features

A
  • Cleft palate
  • Abnormal facies
  • Trymic hypoplasia/immune deficiency
  • Calcium
  • Heart problems
    • Caused by 22 deletion
27
Q

Why is phenotyping important?

A

In genetic analysis, most of the variations do not have clinical manifestations:

  • Need to focus on ones that do
    • Can be done by comparing genome to parents
    • Phenotyping (accurate description of features)

Paediatrics (142 decks)

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