Noonan syndrome (NS)

Overview

NS is a genetic disorder that occurs in both boys and girls. As well as a short stature, it can affect the body in many ways, including facial features, skeletal changes and cardiac anomalies. NS affects between 1 in 1000 and 1 in 2500 children.

Cause

NS is caused by mutations to certain genes critical for the growth and regulation of cells; which is why NS can lead short stature, along with a number of health problems.

Symptoms

Symptoms of NS can vary from child to child. Along with short stature, children may have a number of distinct facial features including a wide forehead, a short neck with excess skin and droopy eyelids. Many children with NS may unfortunately also present with heart problems.

Diagnosis

Diagnosis of NS is challenging for the doctor due to the variety of symptoms, as well as other health problems. Often the doctor will recognise certain facial and skeletal features, plus the presence of heart problems. When treated early enough, most children with NS can reach an adult height that lies within the normal range.

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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