18. Paediatric Genetics Flashcards

1
Q

What are the Features of Down Syndrome?

A
  1. Trisomy 21 - Congenital (Genetic +/- Environment)
  2. Learning Disability
  3. Congenital Heart Disease
  4. Hypothyroidism
  5. Immunity
  6. Early onset Alzheimer’s Disease
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2
Q

What is the Breakdown of the Multiple Congenital Anomaly Syndromes?

A
  1. Single Gene Disorders - 30%
  2. Chromosomal Disorders - 10%
  3. Teratogens - 5%
  4. Unknown - 55%
    Note - Individually Rare, Common as a Group
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3
Q

What is included in the Description of the Dysmorphic Child?

A
  1. Position and Shape of Facial Features
  2. Hands
  3. Growth of Child
  4. General Features
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4
Q

What is included in the Description Position and Shape of Facial Features of the Dysmorphic Child?

A
  1. Head:
  2. a) Shape
  3. b) Size - Macro/Microcephaly)
  4. c) Ear Position
  5. Eyes:
  6. a) Hypertelorism - Inner Canthal Distance (ICD) and Inter-Pupillary Distance (IPD) Increase
  7. b) Telecanthus / Epicanthic Folds - Inner Canthal Distance (ICD) and Inter-Pupillary Distance (IPD) Increase
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5
Q

What is included in the Description Hands of the Dysmorphic Child?

A
  1. Finger Length
  2. Digital Abnormalities
  3. Palmar Creases
    Examples - Marfan Syndrome / Down Syndrome
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6
Q

What are the 2 Types of Malformation?

A
  1. Alone - e.g. Polysyndactylty - HOX D13 One Cause

2. Part of a Syndrome - Acrocephalopolysyndatyly - Greig / GLI3

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7
Q

What are the Features of a Sequence?

A

An Abnormality lead to another, can have Many Causes:

  1. Pierre-Robin Sequence - Small Chin to Cleft Pallate
  2. Foetal Akinesia Sequence:
  3. a) Reduced Foetal Movement
  4. b) Reduced Breathing
  5. c) Contractures
  6. d) Clefting
  7. e) Lung Hypoplasia
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8
Q

What is the Difference between:

  1. Deformation?
  2. Disruption?
A

Both are a Pattern of Development, which was Normal to Start with, but then Becomes Abnormal:

  1. Deformation - Organ Parts are there
  2. Disruption - Parts of Organ / Body Part Absent
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9
Q

What is Association?

A
2+ Features which occur together more often than expected by chance - Mechanism Unclear - VATER:
V - Vertebral Anomalies
A - Ano-Rectal Atresia
T - Tracheo-
E - (O)esophageal Fistula
R - Radial Anomalies
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10
Q

What is a Syndrome?

A

A distinct group of symptoms & signs which, associated together, form a characteristic clinical picture or entity
Note - Cause May / May Not be Known

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11
Q

What are the Features of Turner Syndrome (45X)?

A
  1. Lymphoedema - Puffy Feet / Nuchal Translucency)
  2. Short Stature
  3. Coarctation of the Aorta / Hypertension
  4. Hypothyroidism
  5. Osteoporosis
  6. Increased Carrying Angle / Low Hairline
  7. Primary Amenorrhoea / Infertility
  8. Hormonal Therapy mitigates some Factors
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12
Q

What are the Features of Acrocephalopolysyndactyly?

A
  1. Tall Forehead
  2. Polydactyly - Supernumeracy of Fingers / Toes
  3. Syndactyly - Digits Fused Together
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13
Q

What are the Genetic Investigations of Learning Disability?

A
  1. Microarray
  2. Fragile X
  3. Targeted Tests driven by Phenotype
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