Genetic childhood syndromes

Question 1

Features of Trisomy 13, patau syndrome

Answer 1

1. Microcephalic, small eyes
2. Cleft lip/palate
3. Polydactyly
4. Scalp lesions

Question 2

Edward’s syndrome (trisomy 18) features

Answer 2

Micrognathia
Low-set ears
Rocker bottom feet
Overlapping of fingers

Question 3

Features of Fragile X syndrome

Answer 3

Learning difficulties
Macrocephaly
Long face
Large ears
Macro-orchidism

Question 4

Features of Noonan syndrome

Answer 4

Webbed neck
Pectus excavatum
Short stature
Pulmonary stenosis

Question 5

Features of Pierre-Robin sydrome

Answer 5

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

Question 6

Features of Prader Willi

Answer 6

Hypotonia
Hypogonadism
Obesity

Question 7

Features of William’s syndrome

Answer 7

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