Childhood Syndromes

Question 1

Patau syndrome -trisomy 13

Answer 1

Microcephaly
Micro eyes
Polydactyly
Scalp lesions

Question 2

Edward syndrome -trisomy 18

Answer 2

Micrognathia
Low set ears
Rocker bottom feet
Overlapping fingers

Question 3

Fragile x

Answer 3

Macrocephaly
Large ears
Learning disabilities
Long face
Tiny balls

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 - can cause obstruction
Cleft palate

Question 6

Prader willi syndrome

Answer 6

Hypotonia
Hypogonadism
Obesity

Question 7

William syndrome

Answer 7

Short stature
Learning difficulties
Friendly extrovert personality
Transient hypercalcemia
Subvalvular aortic stenosis

Question 8

Cri du chat

Answer 8

Larynx and neurological problems
Feeding difficulties and poor weight gain
Microcephalic
Micrognathia
Hypertelorism