Genetic

Question 1

Trident shaped hands + short stature

Answer 1

Achondroplasia

Question 2

Rocker Bottom Feet 
Micrognathia 
Overlapped Flexed Fingers 
Microcephaly 
Prominent Occiput

Answer 2

Edward Syndrome

Trisomy 18 (Edward can vote in ELECTIONS at age 18)

Question 3

Micrognathia, cleft palate, glossoptosis

Answer 3

Pierre-Robin sequence

Question 4

Hypogonadism + micropenis + gynaecomastia in later life + tall stature

Answer 4

Klinefeter’s Syndrome

XXY

Question 5

Short stature + widely spaced nipples + ovarian dysgenesis + webbed neck

Answer 5

Turner syndrome

XO

Question 6

Pulmonary stenosis + butterfly vertebrae + biliary atresia, few bile ducts + Tetralogy of Fallot + broad prominent vertebrae

Answer 6

Alagille syndrome

Question 7

Pulmonary stenosis + webbed neck + low set ears with helices + affects both sexes + short stature + high hairline at front

Answer 7

Noonan’s syndrome

aka Turner’s Syndrome of the male

Question 8

Large intestines + macroglossia + exomphalos (weak abdominal walls) + neonatal hypoglycaemia, + gigantism + childhood cancers (Wilms Tumour , hepatoblastoma)

Answer 8

Beckwith Widemann Syndrome

Question 9

Almond shaped palpebral fissures + weak suck in infancy followed by lifelong hyperphagia + hypogonadism + short stature + intellectual disability

Answer 9

Prader-Willi Syndrome

Question 10

Long face, out-turned ears, macroorchidism, Tall stature

Answer 10

Fragile X Syndrome

Question 11

Laughing paroxysms + uplifted flexed arms on walking

Answer 11

Angelman Syndrome

Question 12

Elfin facies + transient neonatal hypercalcaemia + supravalvular aortic stenosis + Pulmonary artery stenosis + intellectual disability + fond of talking/ music

Answer 12

William Syndrome

Question 13

Cat like cry

Answer 13

Cri du chat syndrome

Question 14

CATCH 22 
Cardiac abnormalities (TOF, Truncus arteriosas)
Abnormal facies (bulbous nose tip, prominent ears)
Thymic aplasia 
Cleft palate 
Hypoglycaemia 
Hypoparathyroidism 
22q 11 chromosome deletion

Answer 14

Di George Syndrome

Question 15

Absent red reflex on newborn exam

Answer 15

Retinoblastoma

due to letukochoria

Question 16

Anaemia, short stature, abnormal thumbs

Answer 16

Diamond Blackfann syndrome

Question 17

Epicanthic eyefolds + Brushfield spots + wide toe space between first and second toe

Answer 17

Down syndrome

Brushfield spots = grey/white spots in iris

Question 18

Dystonic neck posturing + GORD

Answer 18

Sandifer syndrome

Question 19

Encephalopathy with aspirin use

Answer 19

Reye syndrome

Only give aspirin in two exceptions, Kawasaki and nephrotic syndrome

Question 20

Sensorineural hearing loss + cataracts + haematuria

Answer 20

Alport Syndrome

Question 21

Exocrine pancreatic failure

+ bone marrow dysfunction + growth retardation

Answer 21

Schwachman Diamond Syndrome

Question 22

Cleft lip, cleft palate , polydactyly
Micropthalmia
Omphalocoele

Answer 22

Patau Syndrome

Patau goes through PUBERTY at 13.

Question 23

Down Syndrome is associated with what conditions later in life:

Answer 23

Atlantoaxial instability 
Duodenal atresia 
Hirschsprung disease
Congenital Heart Disease 
Cataracts, strabismus, ALL, hypothyroidism, obesity, OSA, infections, constipation, early onset Alzheimer Disease

Question 24

Triangular shaped face
Clinodactyly 5th finger
Growth retardation

Answer 24

Silver-Russel Syndrome

Question 25

Intellectual disability + seizures + fair complexity and musty body odour

Answer 25

Phenylketonuria

Question 26

Gradual weakness + hypotonia + sluggish movements + large tongue + bloating

Answer 26

Congenital hypothyroidism

Question 27

Loss of motor milestone at 2-6 months 
Hypotonia 
Cherry red macula 
HSM 
Areflexia

Answer 27

Niemann-pick Disease

Question 28

Loss of motor milestones (2-6mo)
Hypotonia 
Cherry red macula 
Ashkanay jews 
Hyper-reflexia

Answer 28

Tay-Sachs Disease