Gourt > Health > Conditions and Diseases > Genetic Disorders > Noonan Syndrome
Noonan Syndrome (NS) is a relatively common congenital genetic condition which affects both males and females. The principal features include congenital heart malformation, short stature, learning problems, indentation of the chest, impaired blood clotting, and a characteristic configuration of facial features. NS is one of the most common conditions associated with congenital heart anomalies, especially those of the right heart. The syndrome is named after Dr Jacqueline Noonan, a paediatric cardiologist based in Kentucky.
It is believed that 1 in 1,000 to 1 in 2,500 children worldwide are born with Noonan syndrome. It is one of the most common genetic syndromes associated with congenital heart malformations, similar in frequency to Down syndrome. However, the features can vary greatly in patients with NS, thus diagnosis can often be delayed.
Cause
Recurrence in siblings and apparent transmission from parent to child has long suggested a genetic defect with autosomal dominant inheritance and variable expression. A clearly affected person had up to a 50% chance of transmitting it to a child. The fact that affected parents cannot be identified for many children with Noonan syndrome suggests that (1) a parent could carry the gene without being affected, (2) that manifestations were variably expressed and could be so subtle as to go unrecognized, (3) that a high proportion of cases represented new, sporadic mutations, or (4) that Noonan syndrome is heterogeneous, comprising more than one similar condition of differing cause, some not inherited. More on [ Noonan syndrome ]
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Birth Defects Foundation: Noonan Syndrome - History of the Foundation's involvement with Noonan's. Printable booklet and newsletter.
Meta Description: [ BDF Newlife (Birth Defects Foundation) is a UK charity that provides information and support and nurse advice for all birth defects. ]
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National Library of Medicine - Includes the alternate names, a summary and a list of major features for Noonan syndrome.
Noonan Syndrome - Story of 6-year-old Becky, with factsheet and resources.
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Noonan Syndrome - by Michelle Ellis - Account of her life with the disorder.
NORD - Noonan Syndrome - Offers the synonyms, a general discussion and further resources.
Meta Description: [ National Organization for Rare Disorders is dedicated to helping people with rare, orphan diseases. Rarediseases.org contains information on the prevention, treatment and cure of rare diseases. ]
The CaF Directory - A description of Noonan syndrome, its inheritance patterns and pre-natal diagnosing.
Meta Description: [ Contact a Family is a UK charity for families with disabled children. We offer information on specific conditions and rare disorders. ]
The Noonan Syndrome Support Group - Information about this organization as well the disease itself. Offers news, events, a survey, a newsletter and further resources.
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