Prader-Willi syndrome (PWS)

Overview

PWS is a rare genetic disorder in which a part of the brain known as the hypothalamus doesn’t develop as expected. PWS is associated with a number of issues including short stature, difficulties with behavioural and social skills, and distinct facial features. PWS affects about 1 in 20,000 children.

Cause

The cause of PWS is genetic and it can also affect a number of hormonal processes. A few different genes are affected, leading to a number of health issues. In nearly 80% of PWS cases, the body may not produce enough growth hormone leading to short stature.

Symptoms

In PWS a few different genes are affected, therefore symptoms can be quite varied. Some symptoms include short stature, affected infant social skills, distinct facial features, learning disabilities, behavioural and psychiatric problems, late puberty and obesity.

Diagnosis

Diagnosis can be made in the first few months of a baby’s life, allowing early care and treatment. Genetic testing can be used to check the chromosomes in the child’s blood sample. As well as confirming the diagnosis, the results may also determine the likelihood of having another child with the syndrome.

Little girl typing numbers on calculator

Calculate your child’s growth

It is important to keep track of your child’s growth in order to identify if there is a problem early on. We recommend measuring your child every 6 months, which is now easier, with our simple to use growth calculator.

Male and female patients waiting in corridor of medical centre

Get prepared for talking to your doctor

If you are concerned about your child’s growth, don’t hesitate to speak with an HCP. They will be able to complete some measurements and investigate further if needed, potentially referring you on to a specialist. Here we can help you plan for both conversations.

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