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Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, problems with bone structure (skeletal malformations), and developmental delay. Noonan syndrome may be caused by a mutation in any of several genes, and can be classified into subtypes based on the responsible gene. It is typically inherited in an autosomal dominant manner, but many cases are due to a new mutation and are not inherited from either parent. Treatment depends on the symptoms present in each person.
Noonan syndrome belongs to a group of related conditions called the RASopathies. These conditions have some overlapping features and are all caused by genetic changes that disrupt the body's RAS pathway, affecting growth and development. Other conditions in this group include:
Source: GARD Last updated on 05-01-20
Some of the signs and symptoms seen in people with Noonan syndrome (NS) are listed below. Please note that the list below does not include all possible symptoms of NS and that not all people with NS will have all of these the signs and symptoms. In general, the signs and symptoms of NS are more obvious early in life and become less obvious as individuals get older.
A syndrome named Noonan-like/multiple giant cell lesion syndrome used to be considered a separate condition from Noonan syndrome. It is now known that multiple giant cell lesions are one of the possible symptoms that can occur in people with Noonan syndrome.
Last updated on 05-01-20
Management of Noonan syndrome generally focuses on the specific signs and symptoms present in each person. Treatments for the complications of Noonan syndrome (such as cardiovascular problems) are generally standard and do not differ from treatment in the general population.
Developmental disabilities are addressed by early intervention programs. Some children with Noonan syndrome may need special help in school, including for example, an individualized educational program (IEP).
Treatment for bleeding problems depends on the cause. Growth hormone (GH) therapy can increase the rate at which a child with Noonan syndrome grows in most cases. GH therapy during childhood and teen years may also increase final adult height slightly, often enough to reach the low normal range of average height.
Last updated on 05-01-20
Neurofibromatoses and RASopathies: Their Management, Diagnosis, Current and
Future Therapeutic Avenues
Monday, September 30, 2013 - Tuesday, October 01, 2013
Location: Radisson Blu Hotel, Cardiff, Wales
Description: This international meeting will provide a most comprehensive and up to date account of recent developments in this field. Internationally recognized experts from the UK, Europe and the USA will speak on neurofibromatoses and rasopathies. This meeting will be suitable for medical geneticists, oncologists, dermatologists, neurologists, endocrinologists, psychiatrists, molecular and cellular biologists, genetic counsellors and general practitioners.
Last updated on 04-27-20
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