How Common Is Noonan Syndrome?

Can Noonan syndrome be detected before birth?

How’s It Diagnosed.

Before your baby is born, your doctor might consider that he has Noonan syndrome if a pregnancy ultrasound shows: Extra amniotic fluid around your baby in the amniotic sac.

A cluster of cysts in your baby’s neck..

Is Noonan syndrome considered a disability?

Intelligence isn’t affected for most people with Noonan syndrome. However, individuals may have: An increased risk of learning disabilities and mild intellectual disability. A wide range of mental, emotional and behavioral issues that are usually mild.

How do they test for Noonan syndrome?

In most cases, Noonan syndrome can be confirmed by a blood test for the various genetic mutations. However, in about 1 in 5 cases no specific mutation can be found, so a negative blood test won’t rule out Noonan syndrome.

What is a webbed neck?

A webbed neck, or pterygium colli, is a congenital skin fold that runs along the sides of the neck down to the shoulders. There are many variants.

What causes Noonan syndrome?

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 Noonan syndrome?

Noonan syndrome is a disorder that involves unusual facial characteristics, short stature, heart defects present at birth, bleeding problems, developmental delays, and malformations of the bones of the rib cage.

How long does it take to test for Noonan syndrome?

DownloadsTest Code8402Turnaround Time (TAT)14-21 daysNumber of Genes18

Are there any treatments for Noonan syndrome?

There’s no single treatment for Noonan syndrome, but it’s possible to treat many aspects of the condition. Your child may initially need quite a lot of treatment and support to help manage the various problems they have. However, they’ll typically need much less care as they get older.

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.

What is the life expectancy of someone 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. Average age at diagnosis is nine years, and life expectancy is likely normal if serious cardiac defects are absent.

Who does Noonan syndrome affect?

Noonan syndrome appears to affect more males than females and is thought to affect approximately one in 1,000 to one in 2,500 people. However, other reports indicate that the disorder may affect more than one in 1,000 newborns in the general population.

What is another name for Noonan syndrome?

Noonan syndromeOther namesMale Turner syndrome, Noonan-Ehmke syndrome, Turner-like syndrome, Ullrich-Noonan syndromeA 12-year-old girl with Noonan syndrome. Typical webbed neck. Double structural curve with rib deformity.SpecialtyMedical genetics, pediatrics12 more rows

Is Noonan syndrome common?

Noonan syndrome is a condition that some babies are born with. It causes changes in the face and chest, usually includes heart problems, and slightly raises a child’s risk of blood cancer (leukemia). Noonan syndrome is a pretty common condition, affecting 1 in 1,000–2,500 babies.

What type of mutation causes Noonan syndrome?

Mutations in the PTPN11, SOS1, RAF1, KRAS, NRAS and BRAF genes cause Noonan syndrome. Most cases of Noonan syndrome result from mutations in one of three genes, PTPN11, SOS1, or RAF1. PTPN11 gene mutations account for approximately 50 percent of all cases of Noonan syndrome.