Childhood syndromes

Question 1

Microcephalic, small eyes
Cleft lip/palate
Polydactyly
Scalp lesions

Answer 1

Patau syndrome (trisomy 13)

Question 2

Micrognathia
Low-set ears
Rocker bottom feet
Overlapping of fingers

Answer 2

Edward’s syndrome (trisomy 18)

Question 3

Learning difficulties
Macrocephaly
Long face
Large ears
Macro-orchidism

Answer 3

Fragile X

Question 4

Webbed neck
Pectus excavatum
Short stature
Pulmonary stenosis

Answer 4

Noonan syndrome

Question 5

Micrognathia
Posterior displacement of the tongue (may result in upper airway obstruction)
Cleft palate

Answer 5

Pierre-Robin syndrome*

Question 6

Hypotonia
Hypogonadism
Obesity

Answer 6

Prader-Willi syndrome

Question 7

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

Answer 7

William’s syndrome

Question 8

Characteristic cry (hence the name) due to larynx and neurological problems
Feeding difficulties and poor weight gain
Learning difficulties
Microcephaly and micrognathism
Hypertelorism

Answer 8

Cri du chat syndrome (chromosome 5p deletion syndrome)