What disease does wide neck have?
Noonan syndrome is a genetic disorder that prevents normal development in various parts of the body. A person can be affected by Noonan syndrome in a wide variety of ways.
Why is it called Noonan syndrome?
Pediatrician John Opitz proposed the eponym Noonan syndrome, which was adopted in recognition of dr. Noonan, as she was the first to indicate that this condition occurs in both sexes, is familial in certain cases, includes congenital heart defects and is associated with normal chromosomes.
Is Noonan syndrome life ending?
Almost all children with Noonan syndrome reach adulthood and most are able to lead normal, independent lives. However, problems such as heart defects can occasionally be severe and life-threatening.
Can Noonan syndrome skip a generation?
In around 30-75% of cases, Noonan syndrome is inherited in what’s known as an autosomal dominant pattern. This means that only one parent has to carry a copy of one of the faulty genes to pass it on, and each child they have will have a 50% chance of being born with Noonan syndrome.
Does Noonan syndrome qualify for disability?
The majority of children who are diagnosed with Noonan syndrome have average intelligence, although a small percentage have special educational needs, and some experience intellectual disability. Some people with the condition experience hearing or vision issues.
Is Noonan syndrome a form of autism?
ASD & Noonan Syndrome There is a 15-30% prevalence of autism in NS. This is not surprising given genome analysis has shown the RAS/MAPK pathway is involved in autism and mutations in this pathway are responsible for Noonan Syndrome. This is significantly higher incidence of ASD than in the non-NS population (1.5%).
Does Noonan syndrome have mental retardation?
The cardinal features of Noonan syndrome include unusual facies (ie, hypertelorism, down-slanting eyes, webbed neck), congenital heart disease, short stature, and chest deformity. Approximately 25% of individuals with Noonan syndrome have mental retardation.