What is Nunes disease?
Overview. 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. These include unusual facial characteristics, short stature, heart defects, other physical problems and possible developmental delays.
What condition causes wide neck?
Signs of Turner syndrome at birth or during infancy may include: Wide or weblike neck.
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.
How long is the average life span of a person with Noonan syndrome?
It is one of the most common non-chromosomal disorders in children with congenital heart disease, with an estimated prevalence worldwide of 1 in 1000-2500. The average age at diagnosis is nine years, and life expectancy is likely normal if serious cardiac defects are absent.
What syndrome causes small ears?
Anotia and microtia are birth defects of a baby’s ear. Anotia happens when the external ear (the part of the ear that can be seen) is missing completely. Microtia happens when the external ear is small and not formed properly.
Can people with Noonan syndrome have a normal life?
Life expectancy with Noonan syndrome is generally normal, but there may be health problems that need to be addressed with medical or surgical attention. Bleeding can result in blood loss, which can cause symptoms of fatigue.
Can someone with Noonan syndrome have kids?
infertility – particularly if undescended testicles aren’t corrected at an early age, there’s a risk of boys with Noonan syndrome having reduced fertility; fertility in girls is usually unaffected.
Does Noonan syndrome affect the brain?
Introduction. Although cognitive impairments in adults with Noonan syndrome seem to be limited to a low‐average intelligence and slower processing speed, studies in children with Noonan syndrome have demonstrated more extensive cognitive problems.