Common childhood syndromes

Question 1

Key features of patau syndrome (trisomy 13)

Answer 1

Microcephalia (small eyes)
Cleft lip/palate
Polydactyly (more than 5 fingers/toes on each hand/foot)
Scalp lesions

Question 2

Key features of Edwards syndrome (Trisomy 18)

Answer 2

Micrognathia (undersized jaw)
Low set-ears
Rocker bottom feet
Overlapping fingers

Question 3

Key features of Fragile X

Answer 3

Learning difficulties
Macrocephaly (large head)
Long face
Large ears
Macro-orchidism (large testicles)

Question 4

Key features of Noonan syndrome

Answer 4

Webbed neck
Pectus excavatum
Short stature
Pulmonary stenosis

Question 5

Key features of Pierre-robin syndrome

Answer 5

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

Question 6

Key features of Prader-Willi syndrome

Answer 6

Hypotonia
Hypogonadism
Obesity

Question 7

Key features of William’s syndrome

Answer 7

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