Noonan's Syndrome

Question 1

What is the nickname for Noonan’s syndrome and why is it called this?

Answer 1

1. The ‘male Turner’s syndrome’

2. Similar phenotype (but it affects men and women equally)

Question 2

What is the inheritance pattern of Noonan’s syndrome and where is the defect?

Answer 2

1. Autosomal dominant

2. Spontaneous mutation on chromosome 12 in 50% of cases

Question 3

What is this a presentation of?
Hypertelorism, low set ears, webbed neck, short stature, pectus carinatum and excavatum, pulmonary stenosis, delayed puberty, easy bruising.

Answer 3

Noonan’s syndrome

Question 4

How is Noonan’s syndrome diagnosed?

Answer 4

1. Consider in any child with pulmonary stenosis or short stature.
2. Confirm genetically by any of the known mutations
3. If -ve, still diagnose based on clinical features.

Question 5

What is the management for Noonan’s syndrome?

Answer 5

1. Screen for complications - regular Echos
2. Growth hormone
3. Normal life expectancy