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CP2 PAEDS > Genetics and Syndromes > Flashcards

Genetics and Syndromes Flashcards

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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
CV complications in Marfans (4)
Aortic dilatation/dissection Aortic regurg Mitral valve prolapse Mitral regurg
26
Main cause of death in Marfans
CV
27
How has life expectancy been increased in Marfans?
Propranolol | Surgery
28
Genetics of Rett's syndrome
X linked | MECP2 gene mutation
29
@ What age does Rett's start occuring
6-18 months
30
What 1/x births does Rett's occur in
1/10,000
31
Presentation Rett's
``` Developmental arrest Gross motor delay Hypotonia Loss eye contact Decr growth ```
32
Rett's @1-4 y/o
Rapid developmental delay/regression
33
Rett's @ 2-10 y/o
Stationary phase | Incr in behaviour, communication + hand use
34
Retts >10 y/o
Late motor deterioration
35
Genetic mutation in Duchenne's MD
Deletion on short arm of x @ Xp21 | --> decr dystrophin --> myofibre necrosis
36
S+S DMD
``` Waddling gait Delayed motor milestones Lanaguage delay Gowers sign Pseudohypertrophy of the calves ```
37
What is Gower's sign
Using hands to walk up body from squatting position
38
What is Pseudohypertrophy of the calves
Replacement of mm by fat
39
@ What age will boys not be mobile if they have DMD?
10-14
40
Common co-morbidity DMD
Scoliosis
41
@ what point would you consider screening for DMD?
If boy not walking by 18 months
42
Initial Ix DMD
CK - x10-100> from normal @birth
43
Diagnosis of DMD (3)
Genetic analysis MM biopsy - assay for Dystrophin protein decr Clinical observation - mm strength + fct
44
Mx DMD (9)
``` 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
LE DMD
20s
46
Why do people w/ DMD die early
Resp failure/cardiomyopathy
47
What part of the embryo does the nervous system + skin come from?
Ectoderm
48
What is neurofibromatosis?
Genetic disorder --> lesions skin, skeleton + MS ``` AD New mutations (hence no FHx) ```
49
Prevalence NFM-1
1/4000
50
What is NFM-1
Loss of neurofibromin (TS) --> incr risk developing benign/malig tumours
51
Diagnostic criteria NFM-1
``` 2 of >: Cafe-au-lait spots 6+ >1 neurofibroma Axillary freckles Optic glioma Lisch nodule Sphenoid dysplasia 1st degree relative w/ NFM-1 ```
52
Prevalence NFT-2
1/100,000
53
When does NFT-2 present
In adolescence
54
which has a worse prognosis - NFT1 or 2
2
55
Diagnostic criteria NFT-2
``` 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
Consequence of bilateral acoustic neuromas in NFT-2
Deaf
57
What are both types of NFT associated with
Endocrine disorders - MEN syndrome
58
Features of MEN syndrome
PCC Pulm HoTN Renal aa stenosis Gliomatous changes
59
Genetics of tuberous sclerosis
AD TSC1/2 gene mutation | Codes of hamartin + tuberin
60
Cutaneous features of Tuberous sclerosis (3)
Ash leaf patches that fluoresce in UV Rough patches skin over lumbar spine Adenoma in butterfly distribution over face
61
Neuro features of Tuberous sclerosis (4)
Infantile spasm Developmental delay Epilepsy Intellectual impairment
62
What is the most common form of short-limb dysplasia
Achondroplasia
63
RF achondroplasia
Paternal age
64
CF achondroplasia (4)
V short arms + legs Narrow chest Broad limbs Small face/flat nasal bridge
65
LT problems achondroplasia
``` Short stature Disability in arm fct/locomotion Kyphosis OA Spinal stenosis Obesity ENT - OM, URTI, deafness, apnoea ```
66
LE in achondroplasia
Normal
67
Genetic issue in PKU
Absent PAH enzyme activity --> incr phenyalanine --> neurotoxic byproducts
68
Hence, what will occur in PKU within the 1st year
Learning disability
69
Diagnosis of PKU is made on
``` Most - heel prick Fair + pale blue eyes b/c no melanin Incr developmental delay Vomiting Musty odour Eczemous skin eruptions Seizures Self mutilation ```
70
Mx PKU
Metabolic clinic - protein restricted
71
Prognosis PKU
Excellent if adhere to diet + intelligence becomes normal
72
How is PKU screened
In Guthrie

CP2 PAEDS (18 decks)

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