Childhood Syndromes

Question 1

Patau syndrome (trisomy 13) (4)

Answer 1

Microcephalic, small eyes
Cleft lip/palate
Polydactyly
Scalp lesions

Question 2

Microcephalic, small eyes

Answer 2

Patau syndrome (trisomy 13)

Question 3

Cleft lip/palate (2)

Answer 3

Patau syndrome (trisomy 13)
Pierre robin syndrome

Question 4

Polydactyly

Answer 4

Patau syndrome (trisomy 13)

Question 5

Edwards syndrome (trisomy 18) (4)

Answer 5

Micrognathia
Low set ears
Rocker bottom feet
Overlapping of fingers

Question 6

Micrognathia (3)

Answer 6

Edwards syndrome (trisomy 18)
Pierre robin syndrome
Cri du chat syndrome

Question 7

Low set ears (2)

Answer 7

Edwards syndrome (trisomy 18)
Down’s syndrome

Question 8

Rocker bottom feet

Answer 8

Edwards syndrome (trisomy 18)

Question 9

Overlapping fingers

Answer 9

Edwards syndrome (trisomy 18)

Question 10

Fragile X (6)

Answer 10

Learning difficulties
Macrocephaly
Long face
Large ears 
Macro-orchidism

Question 11

Learning difficulties (4)

Answer 11

Fragile X
Williams syndrome
Cri du chat syndrome
Down’s syndrome

Question 12

Macrocephaly

Answer 12

Fragile X

Question 13

Long face

Answer 13

Fragile X

Question 14

Large ears

Answer 14

Fragile X

Question 15

Macro orchidism

Answer 15

Fragile X

Question 16

Down’s syndrome (trisomy 21)

Answer 16

Upslanting palpebral fissures 
Epicanthic folds 
Brushfield spots in iris 
Protruding tongue
Low set ears 
Round/flat face
Flat occiput
Single palmar crease 
Hypotonia 
Duodenal atresia
Hirschprungs disease 
Short stature 
Atlantoaxial instability

Question 17

Down’s syndrome cardiac issues (5)

Answer 17

Endocardial cushion defect 
VSD
ASD
TOF
PDA

Question 18

Noonan syndrome (4)

Answer 18

Webbed neck
Pectus excavatum
Short stature
Pulmonary stenosis

Question 19

Webbed neck (2)

Answer 19

Noonan syndrome

Turner syndrome

Question 20

Pectus excavatum

Answer 20

Noonan syndrome

Question 21

Short stature (4)

Answer 21

Noonan syndrome
Down’s syndrome
Williams syndrome
Turner syndrome

Question 22

Pulmonary stenosis

Answer 22

Noonan syndrome

Question 23

Pierre robin syndrome (3)

Answer 23

Micrognathia
Posterior displacement of tongue
Cleft palate

Question 24

Posterior displacement of tongue

Answer 24

Pierre robin syndrome

Question 25

Prader wili syndrome (3)

Answer 25

Hypotonia
Hypogonadism
Obesity

Question 26

Hypotonia (2)

Answer 26

Prader wili syndrome

Down’s syndrome

Question 27

Hypogonadism

Answer 27

Prader wili syndrome

Question 28

Obesity

Answer 28

Prader wili syndrome

Question 29

Turner syndrome (6)

Answer 29

Short stature
Shield chest, widely spaced nipples
Webbed neck 
Bicuspid aortic valve
Coarctation of aorta 
Primary amenorrhea

Question 30

Shield chest, widely spaced nipples

Answer 30

Turner

Question 31

Bicuspid aortic valve

Coarctation of aorta

Answer 31

Turner

Question 32

Primary amenorrhea

Answer 32

Turner

Question 33

Williams syndrome (5)

Answer 33

Short stature 
Learning difficulties 
Friendly, extroverted personality
Transient neonatal hypercalcaemia
Supravalvular aortic stenosis

Question 34

Friendly, extroverted personality

Answer 34

Williams

Question 35

Transient neonatal hypercalcaemia

Answer 35

Williams

Question 36

Supravalvular aortic stenosis

Answer 36

Williams

Question 37

Cri du chat syndrome (5)

Answer 37

Characteristic cry
Feeding difficulties
Learning difficulties
Microcephaly
Micrognathism

Question 38

Characteristic cry

Answer 38

Cri du chat syndrome

Question 39

Feeding difficulties

Answer 39

Cri du chat syndrome

Question 40

Microcephaly

Answer 40

Cri du chat syndrome