NOONAN SYNDROME

Noonan Syndrome is a common condition, estimated to occur in 1/2000 of the population, involving abnormal facial and body features, short stature and congenital heart defects. The latter usually involves abnormalities of the heart valves or of the heart muscle. All children with Noonan syndrome should see a cardiologist and have an ultrasound examination of the heart chambers and valves.

In many ways Noonan syndrome resembles Turner Syndrome although the chromosomes are normal and it occurs in both boys and girls. This condition often occurs in families and it would be relevant to seek specialist genetic advice to both confirm the diagnosis and to determine the risk of recurrence in further offspring.

Children with Noonan syndrome are short, although their stature overlaps the normal range. They also commonly have delayed puberty and this may require therapeutic help. Special growth charts are available of growth in Noonan syndrome and your specialist will be able to show you these and give an estimated final height for your child.

Growth hormone treatment is under clinical study at the present time. Although it certainly improves short term growth rate, we areb unable to say whether GH treatment will affect final height. However initial evidence has suggested that this treatment is not associated with any deterioration in heart function, despite the commonly occuring heart defects.