General

There is not a lot of literature available on dental manifestations in Noonan Syndrome (NS) and we don’t know with any certainty if many of the dental issues discussed in this Blog occur at a greater prevalence among people with NS than the non-NS population. What we aim to do in this Blog Post is…

Introduction Autism Spectrum Disorder (ASD) is a lifelong developmental disability that affects how people behave and interact with the world around them. It may be mild, moderate or severe. The main features of autism are difficulty in social interactions and communication, and restricted and repetitive behaviours and interests. Children or adults with autism may be…

The current Coronavirus (COVID-19) pandemic has created a great deal of stress and anxiety in not just the Noonan Syndrome (NS) community but the general public as well. Many people and carers of people with NS may be concerned about how their condition influences their risk of contracting COVID-19. This Blog Post will explore COVID-19…

Noonan Syndrome Characteristics and Interventions (Noonan Syndrome) by Amrit Bhangoo is the first multi-disciplinary compendium of the multiple aspects of Noonan Syndrome that require medical assessment, monitoring and treatment. As such, this is a valuable resource for health professionals and individuals with Noonan Syndrome and their caregivers. The book comes with an impressive pedigree as…

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.…

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…

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…

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…

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…

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…