genetic disorders

Question 1

klinefelter syndrome cause

Answer 1

47 XXY karyotype - primary hypogonadism

Question 2

klinefelter syndrome presentation

Answer 2

tall thin males - arm span exceeds body length
gynaecomastia
azoospermia
infertile
decreased sexual maturation
lower IQ

Question 3

klinefelter syndrome managment

Answer 3

androgen therapy

Question 4

turners syndrome cause

Answer 4

45 XO monosomy

Question 5

turners syndrome presentation

Answer 5

short girls
webbed neck
broad chest
widely spaced nipples
gonadal dysgenisis - causes absent incomplete puberty, amenorrhoea
aortic coarctation

Question 6

turners syndrome management

Answer 6

recombinant growth hormone for short stature

oestrogen (12 yrs) initiates puberty and prevents osteoporosis

Question 7

downs syndrome cause

Answer 7

trisomy 21 (non disjunction or translocation)

Question 8

downs syndrome presentation
cardio
gastro
orthopaedic
endo
neuro

Answer 8

avsd, vsd, tet of fallot
hirschprungs
short, hypotonia, single palmer crease
flat facial profile, small low set displastic ears
seizures, dementia

Question 9

edwards syndrome cause

Answer 9

trisomy 18

Question 10

edwards syndrome presentation

Answer 10

microcephaly
rockerbottom feet
short sterum
psychomotor and growth retardation

Question 11

pataus syndrome cause

Answer 11

trisomy 13

Question 12

pataus syndrome presentation

Answer 12

high mortality
cardiac defects - patent ductus arterious, VSD
microcephaly

Question 13

fragile x syndrome cause

Answer 13

x linked

CGG repeat lengthens as passed on generations

Question 14

fragile x syndrome presentation

Answer 14

long narrow face, large ears, large testes
delayed speech and language, learning difficulties
mitral valve prolapse

Question 15

muscular dystrophy presentation

Answer 15

boys aged 1-6 with a waddling clumsy gait

measure CK in all boys not walking by 1.5yrs

Question 16

angelmans syndrome cause

Answer 16

maternal deletion on chromosome 15

Question 17

angelmans syndrome presentation

Answer 17

seizures / epilepsy
laugh and smile to most stimuli
short attention span
fasination with water

Question 18

prader willi syndrome cause

Answer 18

deletion in paternally inherited chromosome 15

Question 19

prader willi syndrome presentation

Answer 19

obesity, hyperphagia (love food)

Question 20

noonan syndrome cause

Answer 20

autosomal dominant

mutation inRAS/MPK pathway

Question 21

noonan syndrome presentation

Answer 21

short
ptosis
down slanting eyes
low set ears
hypertrophic cardiomyopathy and pulmonary stenosis

Question 22

williams syndrome cause

Answer 22

microdeletion at chromosome 7

Question 23

williams syndrome presentation

Answer 23

global development impairment
overfriendly
dysmorphic features - visual impairment, widely spaced teeth and dental irregularities, flattened nasal bridge 
aortic stenosis
hypercalcaemia
hypotonia
failure to thrive

Question 24

VACTERL

Answer 24

Vertebral (scoliosis / hypoplasia)
Anal atresia (imperforate anus)
Cardiac (VSD / ASD / tetralogy)
Tracheo-oesophageal fistula 
oEsophageal atresia
Renal / radial aplasia
Limb defects (hypoplastic thumb, polydactyly, syndactyly)

Question 25

CHARGE

Answer 25

Colomboma (pupil defect)
Heart defect
Choanal Atresia (blockage of nasal passage)
Retardation of growth / development
Genital hypoplasia
Ear anomalies

Question 26

spina bifida definition and aetiology

Answer 26

Failure of neural tube to close in first trimester

Aetiology: Insufficient folic acid, drugs (valproate, carbamezapine)

Question 27

spina bifida types (3)

Answer 27

Occulta = hidden defect, hairy lower back, often asymptomatic
Meningocele = meninges protrude but not exposed, spinal cord intact
Myelomeningocele = open lesion, severe weakness + disability