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3a Child Health > Genetic conditions > Flashcards

Genetic conditions Flashcards

1
Q

What is Klinefelter syndrome

A

When a male has an additional X chromosome making them 47 XXY

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2
Q

Give 5 clinical features of Klinefelter syndrome

A
  • Taller height
  • Infertility
  • Gynaecomastia (swelling)
  • Small testes
  • Subtle learning difficulties - speech and language
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3
Q

How is Klinefelter syndrome managed

A
  • testosterone injections
  • Breast reduction surgery
  • advanced IVF techniques to allow fertility
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4
Q

Give 3 complications of Klinefelter syndrome

A
  • diabetes
  • breast cancer
  • osteoporosis
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5
Q

What is turners syndrome

A

chromosomal disorder involving a complete or partial absence of the second X chromosome in females making them 45 XO

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6
Q

Give 6 clinical features of turners syndrome

A
  • short stature
  • neck webbing
  • widely spaced nipples
  • lymphoedema in neonates
  • delayed/ incomplete puberty (primary amenorrhoea)
  • underdeveloped ovaries with reduced function (infertility)
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7
Q

Give 4 conditions associated with turners syndrome

A
  • bicuspid aortic valve
  • coarctation of the aorta
  • hypothyroidism
  • aortic dissection and dilation
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8
Q

How is turners syndrome managed

A
  • Growth hormone therapy
  • Oestrogen replacement can help establish female secondary sex characteristics
  • Monitoring for associated conditions
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9
Q

What is the main inheritance pattern of Noonan syndrome

A

Autosomal dominant

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10
Q

Give 6 features of Noonan syndrome

A
  • Short stature
  • wide-spaced down-slanting eyes
  • webbed neck
  • low-set posteriorly rotated ears
  • pectus excavatum
  • wide-spaced nipples
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11
Q

Give 4 conditions associated with Noonan syndrome

A
  • Congenital heart disease
  • Cryptorchidism (undescended testes)
  • bleeding disorders (factor XI deficicency)
  • learning difficulties
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12
Q

What 3 congenital heart conditions are common in children with Noonan syndrome

A
  • Hypertrophic cardiomyopathy
  • atrial septal defect
  • pulmonary valve stenosis
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13
Q

How is Noonan syndrome managed

A
  • supportive management with MDT
  • corrective heart surgery is often needed for congenital HD
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14
Q

What causes fragile X syndrome

A

trinucleotide repeat disorder on the X chromosome

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15
Q

Inheritance pattern of fragile X syndrome

A

X linked but unclear whether it is dominant or recessive
- females are affected variably

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16
Q

Give 5 features of fragile X syndrome

A
  • Large testicles after puberty
  • Long, narrow face
  • large posteriorly everted ears
  • moderate-severe learning difficulties
  • hypermobile joints
  • mitral valve prolapse
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17
Q

What is Prader-Willi syndrome

A

A genetic condition caused by the absence of the active prader-willi gene on the long arm of chromosome 15

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18
Q

Prader-Willi syndrome typically occurs due to one of two main genetic mutations. State these in relation to PWS

A
  • Paternal deletion of involved genes (mc)
  • maternal uniparental disomy - two copies of chromosome 15 inherited from mother
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19
Q

Give 5 clinical features of Prader-Willi syndrome

A
  • Constant insatiable hunger leading to obesity (starting in older child)
  • central hypotonia
  • Neonatal feeding difficulties
  • hypogonadism
  • developmental delay and learning difficulties
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20
Q

Give 2 symptoms associated with hypotonia in neonates with PWS

A
  • weak cry
  • poor suck
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21
Q

Give 4 physical features that may be seen in a person with PWS

A
  • almond-shaped face
  • narrow forehead
  • Thin upper lip
  • small hands and feet, short stature
22
Q

How is Prader-Willi syndrome managed

A

MDT management: dietician, endocrinologists, physios, psychiatrist
* management of access to food - locks on fridge/ cupboards
* Growth hormone treatment in first year of life - improve muscle development and body composition

23
Q

What is Angelman syndrome

A

genetic condition caused by a mutation or deletion in the UBE3A gene on chromosome 15

24
Q

Angelman syndrome typically occurs due to one of two main genetic mutations. State these relative to Angelman

A
  • deletion of UBE3A gene from maternal chromosome 15 (mc)
  • uniparental disomy - person inherits two copies of chromosome 15 from father (no maternal copies)
25
Q

Give 6 features of Angelman syndrome

A
  • Unusual fascination with water
  • happy demeanour and inappropriate laughter
  • epilepsy
  • abnormal sleep patterns
  • ataxia
  • microcephaly
  • wide mouth with wide-spaced teeth
  • severe cognitive impairment and developmental delay - specifically speech
26
Q

What causes william syndrome

A

sporadic deletion of genetic material on one copy of chromosome 7 resulting in only a single copy of genes

27
Q

Give 6 clinical features of William syndrome

A
  • very sociable trusting personality
  • starburst eyes (iris)
  • wide mouth with a big smile
  • short upturned nose
  • small chin
  • mild-moderate learning difficulties
28
Q

Give 3 conditions associated with William syndrome

A
  • Supravalvular aortic stenosis
  • transient neonatal hypercalcaemia
  • peripheral pulmonary artery stenosis
29
Q

What causes down syndrome

A

trisomy 21 - 3 copies of chromosome 21

30
Q

Give 6 characteristic facies of down syndrome

A
  • small and flat head with round face
  • flat nasal bridge
  • brushfield spots in iris
  • small ears and short neck
  • upslanted palpebral fissures
  • epicanthic folds - skin fold of upper eyelid that covers the inner corner of the eye
  • small mouth and protruding tongue
31
Q

Give 2 gastrointestinal conditions associated with down syndrome

A
  • duodenal atresia
  • Hirschsprung’s disease
32
Q

Apart from characteristic facies, give 5 other clinical features of down syndrome

A
  • hypotonia
  • single palmar crease
  • developmental delay
  • congenital heart defects
  • duodenal atresia
  • wide gap between first and second toe
33
Q

The incidence of trisomy 21 due to nondisjunction is related to what risk factor

A

maternal age - older maternal age at conception influences chromosome segregation in the eggs

34
Q

How is down syndrome diagnosed

A
  • antenatal screening - risk assessment
  • chromosomal karyotype analysis
35
Q

Give 4 things children with down syndrome should be screened for periodically

A
  • Vision
  • Hearing
  • hypothyroidism
  • cardiac defects
36
Q

How is down syndrome managed

A
  • MDT approach - SALTs, cardiologist, physio
  • regular screening of complications
  • genetic counselling
  • early intervention for development
37
Q

Give 6 later complications of down syndrome

A
  • subfertility
  • Alzheimer’s disease
  • obstructive sleep apnoea - snoring
  • repeated respiratory infections (+hearing impairment from glue ear)
  • short stature
  • acute lymphoblastic leukaemia
  • hypothyroidism
  • atlantoaxial instability - increased risk of neck dislocation
38
Q

Give 5 cardiac complications of down syndrome

A
  • endocardial cushion defect
  • VSDs
  • ASDs
  • ToF
  • isolated patent ductus arteriosus
39
Q

What is the most common form of congenital heart disease in down syndrome

A

atrioventricular septal defect

40
Q

What chromosome abnormality is associated with Edwards syndrome?

A

trisomy 18

41
Q

Give some key features of Edwards syndrome

A
  • Micrognathia (small jaw/ chin)
  • Low-set ears
  • Rocker bottom feet
  • flexed, overlapping of fingers
42
Q

What chromosome abnormality is associated with patau syndrome

A

trisomy 13

43
Q

Give some key features of patau syndrome

A
  • Microcephalic (small head), small eyes
  • Cleft lip/palate
  • Polydactyly
  • Scalp lesions
44
Q

What is Duchenne muscular dystrophy

A

X-linked recessive inherited disorder affecting the dystrophin genes, essential for normal muscle function

45
Q

What are the key features of Duchenne muscular dystrophy?

A
  • Progressive proximal muscle weakness starting around age 5
  • abnormal gait/ delayed motor milestones
  • calf hypertrophy
  • Gower’s sign
  • intellectual impairment
46
Q

Describe the process of Gower’s sign.

A

To perform Gower’s sign, a child:

  • Gets onto hands and knees.
  • Pushes hips up and backwards.
  • Shifts weight backwards and moves hands to knees.
  • Walks hands up legs to stand, keeping legs mostly straight.
47
Q

Why do children with proximal muscle weakness use Gower’s sign?

A

the muscles around the pelvis are not strong enough to elevate their upper body without the help of their arms.

48
Q

How is Duchenne muscular dystrophy investigated?

A
  • raised serum creatinine kinase levels
  • genetic testing
49
Q

What is the management approach for Duchenne muscular dystrophy?

A

largely supportive
* corticosteroids (prednisolone) to help preserve mobility and prevent scoliosis
* physiotherapy and exercise to maintain muscle power and mobility
* wheelchairs/ night splints

50
Q

What is the prognosis for children with Duchenne muscular dystrophy?

A
  • Most children cannot walk by age 12
  • typically survive to around 25-30 years
  • associated with dilated cardiomyopathy and respiratory failure

3a Child Health (19 decks)

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