Prader–Willi syndrome

Question 1

Prevalence

Answer 1

This uncommon disorder (1 in 10 000–15 000)

Question 2

Cause

Answer 2

The most common cause is deletion in the short arm of chromosome 15.

Question 3

Features

Answer 3

Classic two features, which a GP should be aware of:

• bizarre appetite, causing morbid obesity
• eating habits

Hypotonic infants with failure to thrive, then

Mental retardation

Narrow forehead and turned–down mouth

Small hands and feet

Hypogonadism

Question 4

Management

Answer 4

Early diagnosis and referral

Multidisciplinary approach

Expert dietetic control