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

Question 6

Treacher-Collins syndrome

Answer 6

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

Question 7

prader-willi syndrome

Answer 7

Hypotonia
Hypogonadism
Obesity

Question 8

williams syndrome

Answer 8

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

Question 9

Cri du chat syndrome (chromosome 5p deletion syndrome)

Answer 9

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

Question 10

how do you diagnose Williams syndrome?

Answer 10

FISH studies