Childhood Syndromes

Question 1

What are features of Pataus?

Answer 1

Trisomy 13
Microcephalic
Small eyes
Cleft lip/palate
Polydactyl
Scalp lesions

Question 2

What are features of Edwards?

Answer 2

Micrognathia
Low set ears
Rocker bottom feet
Overlapping fingers

Question 3

What are features of Fragile X?

Answer 3

Learning difficulties
Macrocephaly
Long face
Large ears
Marco-orchidism

Question 4

What are features of Noonan Syndrome?

Answer 4

Webbed Neck
Pectus Excavatum
Short stature
Pulmonary stenosis

Question 5

What are features of Pierre Robin Syndrome?

Answer 5

Sox 9 gene

Microganthia
Posterior displacement of the tongue
Cleft palate

Question 6

What are features of Prader Willi Syndrome?

Answer 6

Chromosome 15
Hypotonia
Hypogonadism
Obesity

Question 7

What are features of Williams Syndrome?

Answer 7

Partial deletion on chromosome 7

Short stature
Learning difficulties
Friendly- extroverted
Transient neonatal hypercalacemia
Supravalvular aortic stenosis

Question 8

What are features of Cri du Chat?

Answer 8

Chromosome 5p deletion
Characteristic cry due to larynx problems
Feeding difficulties and poor weight gain
Learning difficulties
Micricephaly and micrognathism