Traids 1

Question 1

pallor + jaundice + hepatosplenomegaly

Answer 1

thalassaemia major

Question 2

failure to thrive + chronic cough + loose bowel actions

Answer 2

cystic fibrosis

Question 3

light brown skin patches + skin tumours + axillary freckles

Answer 3

neurofibramoatisis

Question 4

male + gait disorder + bulky calves

Answer 4

Duchenne muscular dystrophy

Question 5

chorea + abnormal behaviour + dementia

Answer 5

Huntingtons

Question 6

unusual face + intellectual disability + large testicles

Answer 6

fragile X syndrome

Question 7

neonatal hypotenoia + failure to thrive + later obesity

Answer 7

prader willi

Question 8

tall stature + myopia / disloacted lens + aortic root dilation

Answer 8

marfans

Question 9

facial rash + intellectual disability + seizures

Answer 9

tubersous sclerosis

Question 10

widespread eyes, lowset ears + short stature + [pulmonary stenosis

Answer 10

Noonan

Question 11

lanky male + small testicles + infertility

Answer 11

Klinefelters

Question 12

short stature + webbed neck + face

Answer 12

Turner

Question 13

arthirits + ear cartilege pigmentation + black urine with alkalisation

Answer 13

alkaptonuria

Question 14

odour + hypertonicity + siezures in infant

Answer 14

maple syrup urine disease

Question 15

happy puppet

Answer 15

angelman syndrome

Question 16

thirst + polyuria + wieght loss

Answer 16

type 1 diabetes

Question 17

tiredness + husky voice + cold intolerance

Answer 17

myoedema

Question 18

anxiety + weight loss + weakness

Answer 18

thyrotoxicosis

Question 19

fatigue + a/n/v + abdominal pain (=/- skin discolour)

Answer 19

Addisons

Question 20

moon face + thin extremities + muscle weakness

Answer 20

Cushings syndrome

Question 21

nasal probs + fitting problems + increased sweating

Answer 21

acromegaly

Question 22

amenorrhea + decreased 2ndry hair + breast atrophy

Answer 22

hypopituitarism

Question 23

decreased libido + impotence + decreased body hair

Answer 23

hypopituatiarism

Question 24

bones, moans, stones, abdo groans

Answer 24

primary hyperparathyroidism

Question 25

weakness + constipation + polyuria

Answer 25

hypercalcemia

Question 26

cramps + confusion + tetany

Answer 26

hypocalcemia

Question 27

weakness + polyuria + polydipsia

Answer 27

diabetes insipidus