What it is
There is no cure, but early diagnosis and care make a big difference.
Care includes strict control of food access, growth hormone treatment, hormone therapy, exercise and support from a team of specialists.
Common signs
- Floppy muscles and poor feeding in babies
- Constant hunger from childhood
- Rapid weight gain
- Short height and small hands and feet
- Learning difficulties
- Behaviour problems such as temper outbursts
How it is usually diagnosed
- A genetic blood test
Records worth keeping
Keeping these together makes each appointment easier, especially when you see a new doctor:
- Genetic test results
- Growth and weight charts
- Endocrinology and dietitian letters
- Education and care plans
Questions to ask your doctor
- Would growth hormone help my child?
- How can we manage food safely at home?
- What support is available for our family?
When to get help right away
Call 112 or go to the nearest emergency department if you have:
- A swollen, painful tummy or vomiting after eating a lot: call 112, as people with this condition may not show pain or fever
This page is general information. It is not a diagnosis and does not replace a doctor who knows your history. Medfold keeps your records organised; it does not interpret them.