What does someone with Noonan syndrome look like?
People with Noonan syndrome have distinctive facial features such as a deep groove in the area between the nose and mouth (philtrum ), widely spaced eyes that are usually pale blue or blue-green in color, and low-set ears that are rotated backward.
What is the survival rate of Noonan syndrome?
Overall, late survival in children with Noonan syndrome and cardiac defects was good (91 ± 3\% at 15 years), although significantly worse for those with Noonan syndrome-HCM (P < . 01).
Is Noonan syndrome a disability?
Noonan syndrome is a genetic condition that typically includes heart abnormalities and characteristic facial features. About one-third of affected children have mild intellectual disability. Noonan syndrome may be inherited in up to 75 per cent of cases.
Is Noonan syndrome life threatening?
While Noonan syndrome is not life-threatening, if you have the condition you may experience associated illnesses, including heart disease, bleeding disorders, and some types of cancer at some point during your lifetime.
Are there any treatments for Noonan syndrome?
There’s no cure for Noonan syndrome, but medical care can help with almost every symptom. For example: Medicines and surgery can help heart problems. Medicines or blood transfusions can treat bleeding.
Does Noonan syndrome affect the brain?
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.
Is Noonan syndrome detected before birth?
Noonan syndrome is one of the most common of genetic syndromes and manifests at birth, yet it is usually diagnosed during childhood. Although prenatal diagnosis of Noonan syndrome is usually not possible, in a few cases the ultrasonographic findings suggested the diagnosis in utero.
Who carries the gene for Noonan syndrome?
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.
What causes Noonan disease?
Noonan syndrome is caused by a faulty gene, which is usually inherited from one of the child’s parents. There’s no evidence to suggest the genetic fault is caused by environmental factors, such as diet or exposure to radiation.
What is the life expectancy of someone with noonan syndrome?
Life expectancy in case of Noonan syndrome depends on how well the person is taken care of, the complications of the syndrome etc. But it has been observed that the average life expectancy of a person with Noonan syndrome is ten years lesser than what it would have been for a normal person without the disease.
What is the prognosis for Noonan syndrome?
Females with Noonan syndrome typically have normal puberty and fertility. Noonan syndrome can cause a variety of other signs and symptoms. Most children diagnosed with Noonan syndrome have normal intelligence, but a small percentage has special educational needs, and some have intellectual disability.
What gene or chromosome is affected by Noonan syndrome?
Individuals who have Noonan syndrome have normal chromosome studies. Four genes – PTPN11, SOS1, RADF1 and KRAS – are the only genes that are known to be associated with Noonan syndrome. Approximately 50 percent of individuals with Noonan syndrome have mutations in the PTPN11 gene.