Childhood syndromes

Question 1

Patau syndrome (trisomy 13)

Answer 1

Microcephalic, small eyes
Cleft lip/palate
Polydactyly
Scalp lesions

Question 2

Edward’s syndrome (trisomy 18)

Answer 2

Micrognathia
Low-set ears
Rocker bottom feet
Overlapping of fingers

Question 3

Fragile X

Answer 3

Learning difficulties
Macrocephaly
Long face
Large ears
Macro-orchidism

Question 4

Noonan syndrome

Answer 4

Webbed neck
Pectus excavatum
Short stature
Pulmonary stenosis

Question 5

Pierre-Robin syndrome*

Answer 5

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

*this condition has many similarities with Treacher-Collins syndrome. One of the key differences is that Treacher-Collins syndrome is autosomal dominant so there is usually a family history of similar problems

Question 6

Prader-Willi syndrome

Answer 6

Hypotonia
Hypogonadism
Obesity

Question 7

William’s syndrome

Answer 7

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

Question 8

Cri du chat syndrome (chromosome 5p deletion syndrome)

Answer 8

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