What Is Noonan Syndrome?

Is Noonan syndrome 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..

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.

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 the difference between Noonan syndrome and Turner syndrome?

However, there are many important differences between the two disorders. Noonan syndrome affects both males and females, and there is a normal chromosomal makeup (karyotype). Only females are affected by Turner syndrome, which is characterized by abnormalities affecting the X chromosome.

What does 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.

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 cause of 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 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.

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.

How long does it take to test for Noonan syndrome?

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

What are the symptoms of Noonan syndrome?

What are the symptoms of Noonan Syndrome?A characteristic facial appearance.Short stature.Heart defect present at birth (congenital heart defect).A broad or webbed neck.Minor eye problems such as strabismus in up to 95 percent of individuals.Bleeding problems such as a history of abnormal bleeding or bruising.More items…•

Is Noonan syndrome life threatening?

Noonan syndrome can range from being very mild to severe and life-threatening. In many cases, the problems associated with the condition can be successfully treated at a young age or become less prominent over time.

What can be done for a person with Noonan syndrome?

How Is Noonan Syndrome Treated?Medicines and surgery can help heart problems.Medicines or blood transfusions can treat bleeding.Growth hormone can help speed up slow growth.Surgery can correct undescended testicles.Education programs can help a child who has trouble learning.More items…

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

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.

When was Noonan syndrome discovered?

Noonan syndrome was first recognized as a unique entity in 1963, when Noonan and Ehmke described a series of patients with unusual facies and multiple malformations, including congenital heart disease.

What is flat face syndrome?

Flat face-microstomia-ear anomaly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by dysmorphic facial features, including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, …

Is Noonan syndrome a rare disease?

A rare, highly variable, multisystemic disorder mainly characterized by short stature, distinctive facial features, congenital heart defects, cardiomyopathy and an increased risk to develop tumors in childhood.

What does it mean when your ears are lower than your eyes?

Specifically, low-set ears are defined as outer ears positioned two or more standard deviations lower than the population average. Low-set ears can be associated with conditions such as: Down syndrome. Turner syndrome.