Childhood syndromes

Question 1

Patau syndrome features

Answer 1

microcephaly
small eyes
cleft lip/palate
polydactyly
scalp lesions

Question 2

Edward’s syndrome features

Answer 2

micrognathia
low-set ears
rocker bottom feet
overlapping of fingers

Question 3

Fragile X features

Answer 3

learning difficulties
macrocephaly
long face
large ears
macro-orchidism

Question 4

Noonan syndrome features

Answer 4

webbed neck
pectus excavatum
short stature
pulmonary stenosis

Question 5

Pierre-Robin syndrome features

Answer 5

micrognathia
posterior displacement of the tongue (can cause upper airway obstruction)
cleft palate

Question 6

Prader-Willi syndrome features

Answer 6

hypotonia
hypogonadism
obesity

Question 7

William’s syndrome features

Answer 7

short stature
learning difficulties
friendly, extrovert personality
transient neonatal hypercalcaemia
supravalvular aortic stenosis

Question 8

Cri du chat syndrome features

Answer 8

characteristic cry due to larynx + neurological problems
feeding difficulties + poor weight gain
learning difficulties
microcephaly
micrognathism
hypetelorism

Question 9

Cri du chat genetics

Answer 9

chromosome 5p deletion syndrome