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CP2 PAEDS > Genetics and Syndromes > Flashcards

Genetics and Syndromes Flashcards

1
Q

What are the main aims of genetic counselling?

A

SUpport + education;
Understand the situation
Make own decisions about managing risk

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2
Q

What are some other aims of genetics counselling?

A 
Listen to concerns of family 
Establish correct diagnosis 
Risk estimation 
Communication - written info good 
Options for Mx and prevention
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3
Q

What is a malformation

A

Structural defect of development

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4
Q

What is a deformation

A

Intrauterine mechanical force that distorts normal structures

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5
Q

What is disruption

A

Destruction of parts that were normal

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6
Q

What is dysplasia

A

Abnormal structure, function of specific tissue

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7
Q

Common features in Noonans

A 
Pulmonary stenosis 
Webbed neck 
Short stature 
Broad forehead
Wide eyes (down slant) 
Low ears
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8
Q

Common features in Williams

A 
Short stature 
V friendly 
Learning difficulties 
Supravalvular aortic stenosis 
Neonatal hypercalcaemia 
Upturned nose, wide eyes, small chin, slightly puffy cheeks
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9
Q

Common Features Prader-WIlli syndrome

A 
Almond eyes 
Narrow forehead temples 
Narrow nose
Thin lips 
Decr tone 
Decr gonad 
Incr appetite
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10
Q

How much alcohol are women recommended to drink in pregnancy ?

A

Recommended to abstain

If they do drink - no > 1-2 units 1-2x week

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11
Q

What is the triad of foetal alcohol syndrome?

A

Growth failure
Craniofacial abnormalities
Neurodevelopment

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12
Q

Growth failure in FOS

A

Decr Weight
Decr length
Stunted for life

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13
Q

Craniofacial abnormalities in FOS (6)

A 
Microcephaly 
Flat philtrum 
Thin upper lip 
Ptosis 
Cleft lip/palate
Posterior rotation of ears
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14
Q

Neurodevelopment issues in FOS (5)

A 
Decr IQ
ADHD 
Memory issues 
Poor social skills/problem solving/co-ordination 
S+L delay
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15
Q

Gene problem in Fragile X syndrome

A

Expansion of repeat seq in FMR1 gene

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16
Q

Proportion males w/ fragile X syndrome

A

1/4000

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17
Q

Proportion females w/ fragile X syndrome

A

1/8000

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18
Q

How does fragile X syndrome affect life expectancy?

A

It doesnt

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19
Q

Presentation Fragile X syndrome

A 
Low IQ <70 
Delayed milestones 
Anxiety 
High forehead, large testes, facial asymmetry, large jaw, long ears 
Changes in connective tissue 
Social withdrawal 
Clumsiness, avoidance by gaze
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20
Q

What does changes in connective tissue lead to in Fragile X syndrome? (3)

A

Prominent ears, hyperexensible finger joints, mitral valve prolapse

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21
Q

@ What age is diagnosis of Fragile X usually made by?

A

3

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22
Q

Mx Fragile X (5)

A 
SALT
Special education 
ADHD Tx if req
SSRI's (anxiety) 
Genetic counselling
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23
Q

What is Marfans?

A

AD connective tissue disorder

Mis-sense mutation in Fibrilin 1 gene

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24
Q

Presentation Marfans (10)

A 
Tall + thin w/ long arms/legs
Long fingers/toes 
Striae --> thoracocolumbar 
PLeural rupture --> pneumothorax
Lens dislocation 
Joint instability 
Kyphosclosiosis 
Lower back pain 
Long face
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25
Q

CV complications in Marfans (4)

A

Aortic dilatation/dissection
Aortic regurg
Mitral valve prolapse
Mitral regurg

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26
Q

Main cause of death in Marfans

A

CV

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27
Q

How has life expectancy been increased in Marfans?

A

Propranolol

Surgery

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28
Q

Genetics of Rett’s syndrome

A

X linked

MECP2 gene mutation

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29
Q

@ What age does Rett’s start occuring

A

6-18 months

30
Q

What 1/x births does Rett’s occur in

A

1/10,000

31
Q

Presentation Rett’s

A 
Developmental arrest 
Gross motor delay 
Hypotonia 
Loss eye contact 
Decr growth
32
Q

Rett’s @1-4 y/o

A

Rapid developmental delay/regression

33
Q

Rett’s @ 2-10 y/o

A

Stationary phase

Incr in behaviour, communication + hand use

34
Q

Retts >10 y/o

A

Late motor deterioration

35
Q

Genetic mutation in Duchenne’s MD

A

Deletion on short arm of x @ Xp21

–> decr dystrophin –> myofibre necrosis

36
Q

S+S DMD

A 
Waddling gait 
Delayed motor milestones 
Lanaguage delay 
Gowers sign 
Pseudohypertrophy of the calves
37
Q

What is Gower’s sign

A

Using hands to walk up body from squatting position

38
Q

What is Pseudohypertrophy of the calves

A

Replacement of mm by fat

39
Q

@ What age will boys not be mobile if they have DMD?

A

10-14

40
Q

Common co-morbidity DMD

A

Scoliosis

41
Q

@ what point would you consider screening for DMD?

A

If boy not walking by 18 months

42
Q

Initial Ix DMD

A

CK - x10-100> from normal @birth

43
Q

Diagnosis of DMD (3)

A

Genetic analysis
MM biopsy - assay for Dystrophin protein decr
Clinical observation - mm strength + fct

44
Q

Mx DMD (9)

A 
Exercise for power + mobility
Passive stretching - prevent contractures 
Good sitting - scoliosis 
Truncal brace - Mx scoliosis 
CPAP
Corticosteroids 10days/month 
Vit D + Ca
Review @ regional centre 
Support groups
45
Q

LE DMD

A

20s

46
Q

Why do people w/ DMD die early

A

Resp failure/cardiomyopathy

47
Q

What part of the embryo does the nervous system + skin come from?

A

Ectoderm

48
Q

What is neurofibromatosis?

A

Genetic disorder –> lesions skin, skeleton + MS

AD 
New mutations (hence no FHx)
49
Q

Prevalence NFM-1

A

1/4000

50
Q

What is NFM-1

A

Loss of neurofibromin (TS) –> incr risk developing benign/malig tumours

51
Q

Diagnostic criteria NFM-1

A 
2 of >: 
Cafe-au-lait spots 6+
>1 neurofibroma 
Axillary freckles 
Optic glioma 
Lisch nodule 
Sphenoid dysplasia 
1st degree relative w/ NFM-1
52
Q

Prevalence NFT-2

A

1/100,000

53
Q

When does NFT-2 present

A

In adolescence

54
Q

which has a worse prognosis - NFT1 or 2

A

2

55
Q

Diagnostic criteria NFT-2

A 
at least 1 of
Bilat CNVIII on MRI (acoustic neuroma) 
1st degree relative w/ NF2 + unilat CNVIII mass 
1st degree relative w/ NF-2 + 2 of: 
> Meningioma 
> Glioma
Schwannoma 
> Juvenile cataracts
56
Q

Consequence of bilateral acoustic neuromas in NFT-2

A

Deaf

57
Q

What are both types of NFT associated with

A

Endocrine disorders - MEN syndrome

58
Q

Features of MEN syndrome

A

PCC
Pulm HoTN
Renal aa stenosis
Gliomatous changes

59
Q

Genetics of tuberous sclerosis

A

AD TSC1/2 gene mutation

Codes of hamartin + tuberin

60
Q

Cutaneous features of Tuberous sclerosis (3)

A

Ash leaf patches that fluoresce in UV
Rough patches skin over lumbar spine
Adenoma in butterfly distribution over face

61
Q

Neuro features of Tuberous sclerosis (4)

A

Infantile spasm
Developmental delay
Epilepsy
Intellectual impairment

62
Q

What is the most common form of short-limb dysplasia

A

Achondroplasia

63
Q

RF achondroplasia

A

Paternal age

64
Q

CF achondroplasia (4)

A

V short arms + legs
Narrow chest
Broad limbs
Small face/flat nasal bridge

65
Q

LT problems achondroplasia

A 
Short stature 
Disability in arm fct/locomotion 
Kyphosis OA
Spinal stenosis 
Obesity 
ENT - OM, URTI, deafness, apnoea
66
Q

LE in achondroplasia

A

Normal

67
Q

Genetic issue in PKU

A

Absent PAH enzyme activity –> incr phenyalanine –> neurotoxic byproducts

68
Q

Hence, what will occur in PKU within the 1st year

A

Learning disability

69
Q

Diagnosis of PKU is made on

A 
Most - heel prick 
Fair + pale blue eyes b/c no melanin 
Incr developmental delay 
Vomiting 
Musty odour 
Eczemous skin eruptions 
Seizures 
Self mutilation
70
Q

Mx PKU

A

Metabolic clinic - protein restricted

71
Q

Prognosis PKU

A

Excellent if adhere to diet + intelligence becomes normal

72
Q

How is PKU screened

A

In Guthrie

CP2 PAEDS (18 decks)

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