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4th Year > Genetic Conditions > Flashcards

Genetic Conditions Flashcards

1
Q

How common is Down’s syndrome?

A

1 in 1000

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2
Q

What is the most common aetiology for DS?

A

Meiotic non-dysjunction

94%

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3
Q

What other aetiologies of DS are there?

A

Translocation 5%

Mosaicism 1%

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4
Q

What is Robertsonian translocation?

A

Translocation from Chr21 to Chr14

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5
Q

What organs are affected in DS? (7)

A 
Heart
Eyes
Ears
Thyroid
Pancreas - DM
Gut
Brain
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6
Q

What are the physical features of DS?

A

Upslanting palpebral folds
Single palmar crease
Wide sandal gap

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7
Q

What are the cardiac defects in DS? (4)

A

Endocardial cushion defect 40%
VSD 30%
ASD 10%
ToF 5%

Often congenital

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8
Q

What are the later complications of DS?

A 
Learning difficulties
Subfertility
Hypothyroidism
Alzheimers by 40yrs
Atlantoaxial instability
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9
Q

What things do you screen for at birth in DS?

A 
Heart defects
DM
Coeliac
Eyes
Ears
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10
Q

What do you screen yearly in DS?

A

Bladder and bowel function
TFTs
Eyes
Ears

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11
Q

What GI issues may be present in DS?

A

Duodenal atresia

Hirschsprungs

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12
Q

Why do all DS babies need Che analysis?

A

Translocation = need parental Chr study

Free trisomy = no need

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13
Q

What is the combined screen?

A

Nuchal translucency
hCG
PAPP-A

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14
Q

What is the quadruple test?

A

hCG
Oestriol
AFP
Inhibin-A

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15
Q

What is the risk of having a baby with DS if >40yrs?

A

1 in 100

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16
Q

What is the risk of having a baby with DS if >44yrs?

A

1 in 50

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17
Q

What is the triad of features for ASD?

A

Impairment of social interaction
Impairment of communication
Restrictive, repetitive and stereotyped patterns of behaviour

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18
Q

What is different about Asperger’s?

A

Tend to have above average intelligence

Understand that they do not fit in

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19
Q

What is the prevalence of ASD?

A

1%

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20
Q

What health problems are associated with ASD?

A

Learning difficulties
Seizures - 15%
Vision/hearing impairment

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21
Q

What is the management of ASD?

A

MDT approach
Speech and language to help with language
Education of parents and school
ASD team if regression of language <3yrs old

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22
Q

When must ASD have presented by?

A

3yrs

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23
Q

What should you do if a child presents with language regression <3yrs old?

A

Refer to ASD team

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24
Q

What causes 50% of childhood blindness?

A

Genetic causes eg. DS, CHARGE association

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25
Q

What are some congenital cause of blindness? (5)

A 
Cataracts
Albinism
Retinal dystrophy
Retinoblastoma
Congenital infection eg. CMV, rubella
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26
Q

What are some antenatal causes of blindness? (4)

A

Retinopathy of prematurity
Hypoxic-ischaemic encephalopathy
Cerebral damage
Optic nerve hypoplasia

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27
Q

What are some postnatal causes of blindness? (3)

A

Trauma
Infection eg. ophthalmic HSV
JIA -> iritis

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28
Q

What is Isolated Delayed Visual Maturation?

A

No underlying pathology
Rapid and full development between 3-6m
Associated with motor delay

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29
Q

What is DSM with cerebral visual impairment?

A

Infants appear blind

Vision improves over years but may remain impaired

30
Q

What is DSM with ocular disease?

A

Congenital ocular disease (eg. cataracts) interferes with development
Vision improves but some residual deficit

31
Q

What two syndromes are associated with sensorineural deafness?

A

Ushers syndrome = SN deafness + retinitis pigmentosa

Waardenburg syndrome = SN deafness + pigmentation abnormalities

32
Q

What is the most common childhood hearing problem?

A

Glue ear

33
Q

What is the management of chronic glue ear?

A

Grommet insertion

34
Q

How common are squints?

A

1 in 20

35
Q

To what age is it common for newborns to have transient squints?

A

3 months

If continue, refer

36
Q

What is the most common cause of a squint?

A

Failure of development of binocular vision

37
Q

What are some refractive errors causing squints?

A

Myopia
Hypermetropia
Stigmatism

38
Q

What are two serious causes of squints?

A

Cataracts

Retinoblastoma

39
Q

What is esotropia?

A

Eye turns inwards

40
Q

What is exotropia?

A

Eye turns outwards

41
Q

What is hypotonia?

A

Eye turns downwards

42
Q

What is hypertrophia?

A

Eye turns upwards

43
Q

What are the two types of squint?

A

Paralytic

Non-paralytic

44
Q

What causes a non-paralytic squint?

A

Often refractive errors

Easily correctible with glasses

45
Q

What are the features of non-paralytic squints?

A 
Angle of deviation does not vary with direction of gaze
Often esotropic (inwards`0
46
Q

What causes paralytic squints?

A

Damage to extraocular muscles or their nerves

May indicate space-occupying lesion

47
Q

What are the features of paralytic squints?

A

Angle of deviation varies with direction of gaze

Diplopia

48
Q

What are the parts of a squint examination? (9)

A 
Visual acuity
Eye movements
Pupil response
Accommodation
Corneal light reflex
Red reflex
Cover test
Alternate cover test
Fundoscopy
49
Q

What is the management of a squint?

A

Correction of refractive errors
Eye patch to prevent amblyopia if <8yrs old
Follow-up at 6wks and annually until 10yrs old

50
Q

What will paralytic squints need?

A

Surgery

51
Q

What is Fragile X syndrome?

A

X-linked CGG trinucleotide expansion

>200 copies (normally <50)

52
Q

Can females be affected by Fragile X syndrome?

A

Not fully

Large number have learning difficulties

53
Q

What are the features of Fragile X syndrome? (7)

A 
Learning difficulties
Long face
Macrocephaly
Macro-orchidism
Mitral valve prolapse
Autism
Hyperactivity
54
Q

What are the characteristic facial features of Fragile X syndrome? (4)

A

Long face
Large everted ears
Prominent mandible
Large forehead

55
Q

What are the features of Patau syndrome? (4)

A

Microcephalic
Cleft lip
Polydactyly
Scalp lesions

56
Q

What are the features of Edward’s syndrome? (4)

A

Micrognathia
Low-set ears
Rocker-bottom feet
Overlapping fingers

57
Q

What are the features of Noonan syndrome? (4)

A

Webbed neck
Pectus excavatum
Short stature
Pulmonary stenosis

58
Q

What are the features off Pierre-Robin syndrome? (3)

A

Micrognathia
Posterior displacement of tongue
Cleft palate

59
Q

What are the features of Prader-Willi syndrome? (3)

A

Hypotonia (neonatal)
Hypogonadism
Obesity

60
Q

What are the features of William’s syndrome? (5)

A 
Short stature
Learning difficulties
Overly freindly
Transient neonatal hypercalcaemia
Supravalvular aortic stenosis
61
Q

What are the features of Beckwith-Wiedermann syndrome? (3)

A

Fetal macrosomia
Large tongue
Infant becoming hypoglycaemic

62
Q

What are the features of Turner’s syndrome?

A 
Short stature
Webbed neck
Wide-spaced nipples
Neonatal lymphoedema
Primary amenorrhoea
63
Q

What is the karyotype of Turner’s syndrome?

A

45 XO

64
Q

What heart defects are common in Turner’s syndrome?

A

Bicuspid aortic valve

Coarctation of the aorta

65
Q

What is the management of Turner’s syndrome?

A

GH therapy

Oestrogen replacement - allows development of secondary sexual characteristics

66
Q

How is Turner’s syndrome affected by parental age?

A

Increase with increased paternal age

Decreases with increased maternal age

67
Q

How common in Turner’s syndrome?

A

1 in 2500 females

68
Q

When should you consider Turner’s syndrome?

A

Any girl with short stature or primary amenorrhoea

69
Q

What is the karyotype of Klinefelter’s syndrome?

A

47 XXY

70
Q

When is Klinefelter’s syndrome usually diagnosed?

A

Investigations regarding male infertility

Single most common cause of hypogonadism

71
Q

What is the presentation of Klinefelter’s syndrome?

A

Tall stature
Gynaecomastia
Hypogonadism
Infertility - azoospermia

4th Year (15 decks)

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