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.
Can females have Noonan syndrome?
Females with Noonan syndrome can experience delayed puberty but most 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 few have special educational needs, and some have intellectual disability.
Who has Noonan syndrome?
It’s estimated that between 1 in 1,000 and 1 in 2,500 children are born with Noonan syndrome. It affects both sexes and all ethnic groups equally.
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.
Does Noonan syndrome affect certain ethnic groups?
Noonan syndrome is a genetic condition that occurs in males and females of all racial and ethnic backgrounds . It can cause certain facial features, heart defects, bleeding problems, short stature, and developmental delays, especially with speech and language. Noonan syndrome occurs in about 1 in 1,000 to 2,500 people.
Is Noonan syndrome a form of dwarfism?
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. Noonan syndrome is caused by changes in one of several autosomal dominant genes.
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.
What is the average lifespan 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 Noonan syndrome?
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.
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 does mild Noonan syndrome look like?
The condition is present from before birth, although milder cases may not be diagnosed until a child gets older. The most common features of Noonan syndrome are: unusual facial features, such as a broad forehead, drooping eyelids and a wider-than-usual distance between the eyes . short stature (restricted growth)
How do I know if my baby has Noonan syndrome?
Most children with Noonan syndrome have differences in the shape of their face and head . These are noticeable at birth and include: wide-set pale blue or blue-green eyes. thick, low-set ears.
Can you live a normal life with Noonan syndrome?
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.
What is another name for Noonan syndrome?
Other names. Male Turner syndrome , Noonan-Ehmke syndrome, Turner-like syndrome, Ullrich-Noonan syndrome.
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.
What is a webbed neck?
Definition. A congenital , usually bilateral, thick web-like fold of skin that extends from the acromion to the mastoid process. This deformity is associated with Turner Syndrome and Noonan Syndrome. [ from NCI]
