General

Autoimmune Diseases and Noonan Syndrome

Noonan Syndrome (NS) is one of many RASopathies – a group of rare conditions caused by mutations in the RAS-MAPK pathway. The RAS-MAPK pathway is involved in many cellular processes so any mutation can have profound effects on many areas of the body such as heart function, circulation and clotting, fertility, cognition, digestion and immunity.…

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Facial Diagnosis Software Now A Reality!

Rare diseases can be notoriously difficult to diagnose. This can be due to the treating physician not having much awareness or experience with the rare condition or the fact that many genetic syndromes such as Noonan Syndrome (NS) have such a wide variety of presentations. NS has a 50% misdiagnosis rate and here at the…

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Noonan Syndrome and Coeliac Disease

Noonan Syndrome is a RASopathy – a collection of developmental syndromes caused by germline mutations. An increased incidence of autoimmune conditions has been established within the RASopathies and one of these auto-immune conditions we will discuss in this Blog is Coeliac Disease. Whilst more research is needed regarding the incidence of Coeliac Disease (CD) in…

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Hearing Loss in Noonan Syndrome

Hearing Loss in Noonan Syndrome Hearing Loss is common amongst individuals with Noonan Syndrome (NS), affecting up to 50% of people with NS. There can by many causes of hearing loss in NS; all of which we will explore in this Blog. But to better understand hearing loss it is best to first understand the…

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Intellectual Difficulties in Noonan Syndrome

Noonan Syndrome (NS) is one of many RASopathies -a group of conditions caused by mutations in genes coding for molecules in the RAS pathway. This pathway is responsible for and involved in many cellular functions and processes such as neural activity and plasticity which can unfortunately can lead to impairments in some areas of intellectual…

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It’s our Birthday!

On the 28th February we celebrated our 1st Birthday! We have had a great first year and we’d like to thank you for being part of our online Noonan Syndrome Community. Here are some of our accomplishments during our first 12 months: Provided medical and educational resources for people with NS, their caregivers and health…

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Eye and Vision Issues in Noonan Syndrome

There are many common congenital eye abnormalities in Noonan Syndrome. These abnormalities may affect the external structures or aesthetics of the eye and some may affect the internal function or vision of the person affected. In this Blog Post we look at the most common eye and visual deficits associated with Noonan Syndrome and how…

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Cancer and Noonan Syndrome

Noonan Syndrome (NS) is a chromosomal genetic disorder and as such can cause many varied and wide ranging pathologies. One of the most worrying health implications of a NS diagnosis is an increased chance of developing cancer; particularly in childhood. There are several blood-based cancers that occur in NS at a higher rate than the…

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Growth Hormone Therapy and Noonan Syndrome

Growth Hormone Therapy and Noonan Syndrome Short stature affects 83% of children with Noonan Syndrome (NS). The use of Growth Hormone (GH) to treat short stature in NS is a controversial topic due to its conflicting results, cost, duration of treatment and safety concerns. In this Blog Post we examine the reasons why short stature…

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Pulmonary Stenosis and Noonan Syndrome

Few people realise that Noonan syndrome (NS) is the second most common syndromic cause of congenital heart disease, exceeded in prevalence only by Trisomy 21 (Down Syndrome). Several cardiovascular issues can occur in Noonan syndrome. The most common by far is pulmonary stenosis (often with dysplastic valves; 50–60%), followed by hypertrophic cardiomyopathy (20%), and an…

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