Prader-Willi syndrome
Overview
Prader-Willi syndrome is a rare genetic condition that causes a wide range of physical symptoms, learning difficulties and behavioural challenges. It's usually noticed shortly after birth.
Symptoms
Typical symptoms of Prader-Willi syndrome include: an excessive appetite and overeating, which can easily lead to dangerous weight gainrestricted growth(children are much shorter than average)floppiness caused by weak muscles (hypotonia)learning difficultieslack of sexual developmentbehavioural challenges, such as emotional outbursts and physical aggression Read more aboutsymptoms of Prader-Willi syndrome.
Causes
Prader-Willi syndrome is caused by some missing genetic material in a group of genes on chromosome number 15. This leads to a number of problems and is thought to affect part of the brain called the hypothalamus, which produces hormones and regulates growth and appetite. This may explain some of the typical features of Prader-Willi syndrome, such as delayed growth and persistent hunger. The genetic cause happens purely by chance, and boys and girls of all ethnic backgrounds can be affected. It's extremely rare for parents to have more than 1 child with Prader-Willi syndrome. Read more about thecauses of Prader-Willi syndrome. Prader-Willi syndrome itself is not life-threatening. But compulsive eating and weight gain can cause young adults with the syndrome to develop serious obesity-related conditions such as: type 2 diabetesheart failurebreathing difficulties If their diet is well controlled and they do not become overweight, adults can have a good quality of life and probably a normal life expectancy. Many adults with Prader-Willi syndrome take part in activities such as voluntary or part-time work but it's unlikely they'll be able to live fully independent lives. The increased appetite also means there's a higher risk of choking on food, so carers are advised to learnwhat to do if someone is choking.