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

Growth calculator

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

Talking to your doctor about child growth

If you are concerned about your own or your child’s growth, you should speak to a doctor. This section will help you with what questions to ask, so that you can be prepared.

Related

Growth hormone deficiency (GHD)

When a child is diagnosed with GHD, it means that their body is not producing enough growth hormone, so they are not growing the way they should. GHD affects about 1 in every 30,000 children per year.

Familial short stature

Children with familial short stature tend to fall at the lower extreme of the growth chart (below the 3rd percentile) and their growth is usually impacted by their parents’ heights. This does not tend to impact their overall health and their height is generally considered to be appropriate for their genetic potential based on their parents’ heights.