Childhood Syndromes

Question 1

Patau Syndrome / Trisomy 13

Answer 1

Microcephalic, 
small eyes, 
cleft lip/palate, 
polydactyly, 
scalp lesions

Question 2

Edwards Syndrome / Trisomy 18

Answer 2

Microganthia
Low set ears
Rocker bottom feet
Overlapping 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

Microganthia
Posterior displacement of tongue (can cause upper airway obstruction)
Cleft palate
Similar to Treacher-Collins but that is aut Dom

Question 6

Prader-Willi

Answer 6

Hypotonia
Hypogonadism
Obesity

Question 7

Williams Syndrome

Answer 7

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

Question 8

Cri du chat

Answer 8

Characteristic cry due to larynx and neurological problems 
Feeding difficulties poor weight gain 
Learning Difficulties 
Microcephaly and Micrognathism 
Hypertelorism