Question: What Is Noonan Syndrome?

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..

Is Noonan syndrome life threatening?

Outlook. 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 are the treatments for 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 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.

How long does it take to test for Noonan syndrome?

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

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. The average age at diagnosis is nine years, and life expectancy is likely normal if serious cardiac defects are absent.

What is another name for Noonan syndrome?

From Wikipedia, the free encyclopedia. Noonan syndrome. Other names. Male Turner syndrome, Noonan-Ehmke syndrome, Turner-like syndrome, Ullrich-Noonan syndrome.

Does my child have Noonan syndrome?

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. Problems with their heart structure or other structural problems.

What are low ears a sign of?

They are present in many congenital conditions. 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….Low-set earsSpecialtyMedical genetics

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…•Dec 23, 2013

How can you prevent Noonan syndrome?

Because some cases of Noonan syndrome occur spontaneously, there’s no known way to prevent it. However, if you have a family history of this syndrome, talk to your doctor about the benefits of genetic counseling before you have children. Noonan syndrome can be detected with molecular genetic testing.

What is a webbed neck?

Medical genetics. A webbed neck, or pterygium colli, is a congenital skin fold that runs along the sides of the neck down to the shoulders.

What is flat face syndrome?

A rare autosomal dominant syndrome caused by mutations in the TWIST1 gene. It is characterized by premature closure of skull bones resulting in abnormally shaped head, high forehead, hypertelorism, and facial asymmetry. It may be associated with fusion of certain fingers or toes.

How do you 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 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.

Can Noonan syndrome be 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.

Is Turner’s syndrome a disability?

Girls and women diagnosed with Turner Syndrome, a genetic abnormality resulting in a missing or incomplete X chromosome, can qualify for Social Security disability benefits if they experience symptoms that substantially interfere with their daily lives.