Medicines for Noonan syndrome

What it is

Noonan syndrome is a relatively common genetic condition that affects development in a number of ways. It is caused by changes in one of several genes involved in a particular cell-signalling pathway, and can be inherited from a parent or occur as a new change. Its features vary widely between people, even within the same family, but can include: distinctive facial features (which can be subtle and change with age); congenital heart differences (heart problems are common in Noonan syndrome, particularly certain valve and heart muscle conditions, which is an important aspect to check for); short stature (being shorter than average); a broad or webbed neck and chest differences; feeding difficulties in infancy; variable learning and developmental differences (many people have normal intelligence, while some have mild learning difficulties); bleeding or bruising tendencies in some; and other features affecting the eyes, ears, and other systems. Because it affects multiple systems, and the heart in particular, Noonan syndrome is diagnosed and managed with input from several specialists, and the specific care needed depends on which features an individual has. Many people with Noonan syndrome lead full lives, with support tailored to their particular needs.

How it is treated

Noonan syndrome is managed with a coordinated approach tailored to the individual's specific features, usually involving several specialists, since it affects multiple systems. The diagnosis is based on the clinical features and confirmed with genetic testing. Key aspects of care include: assessment and monitoring of the heart (as heart differences are common and important, this is a priority, with treatment of any heart condition as needed); monitoring growth and development, with assessment and support for short stature (growth hormone treatment is considered in some children) and any feeding difficulties in infancy; developmental and educational support where there are learning or developmental differences; checking for and managing other features (such as eye, ear, and bleeding issues) as relevant; and regular follow-up to monitor for issues that can arise over time. Support for the child and family, and access to relevant services and support organisations, are important. Because it is genetic, genetic counselling is offered to explain the condition and inheritance and discuss implications for the family. The reassuring message is that Noonan syndrome is managed with tailored monitoring and support — particularly of the heart, growth and development — and that many people with the condition lead full lives with the right care.