What is Noonan syndrome? (2024)

What is Noonan syndrome?

Noonan syndrome is a genetic condition that stops typical development in various parts of the body. It can affect a person in several ways, including unusual facial features, short height, heart problems and other physical problems.

What is the life expectancy of a person 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.

Can a child with Noonan syndrome have a normal life?

Although they'll probably need to have some routine tests and checks to monitor their symptoms, most adults with Noonan syndrome can lead a normal life.

How do I know if I have Noonan syndrome?

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.

What behaviors are associated with Noonan syndrome?

behavioural problems – some children with Noonan syndrome may be fussy eaters, behave immaturely compared to children of a similar age, have problems with attention and have difficulty recognising or describing their or other people's emotions.

What do kids with Noonan syndrome look like?

wide-set pale blue or blue-green eyes. thick, low-set ears. a thickened philtrum (the pair of ridges between the nose and the mouth) loose skin on the neck or a short and broad neck.

What is the IQ of Noonan syndrome?

The IQ of eight male patients with Noonan's syndrome, aged 13 to 26 years, ranged from 64 to 127, with a median of 102. The full IQ masked the possible presence of specific verbal or praxic (visual-constructional) disability.

What gender does Noonan syndrome affect?

Both syndromes display a webbed neck and short stature. However, only females are affected by Turner syndrome (45, X0), as the X chromosome is affected. Both males and females are affected by Noonan syndrome, and the karyotype is normal.

Is Noonan syndrome considered a disability?

Up to 35 per cent of people with Noonan syndrome will have a mild intellectual disability, but most people will be unaffected. People who experience intellectual disability with Noonan syndrome may also experience developmental delays with their speech, language and coordination.

Is Noonan syndrome like autism?

ASD & Noonan Syndrome

There is a 15-30% prevalence of autism in NS. This is not surprising given genome analysis has shown the RAS/MAPK pathway is involved in autism and mutations in this pathway are responsible for Noonan Syndrome. This is significantly higher incidence of ASD than in the non-NS population (1.5%).

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 medication is used for Noonan syndrome?

At what age is Noonan syndrome diagnosed?

A doctor typically diagnoses Noonan syndrome after seeing some key signs. But this can be difficult because some features of the condition are not easily seen and are hard to find. Sometimes Noonan syndrome is not found until adulthood, after a person has a child who is more clearly affected by the condition.

Who is more likely to get Noonan syndrome?

Approximately 30-75 percent of patients inherit a mutation in one of the genes associated with Noonan syndrome from a parent who also has Noonan syndrome. In the remaining patients, there is no family history of Noonan syndrome.

What color are Noonan syndrome eyes?

Noonan syndrome may include these features: Eyes are wide-set, slant down and have droopy lids. Eyes may be pale blue or green. Ears are set low and look like they're tipped backward.

What are some interesting facts about Noonan syndrome?

Most children diagnosed with Noonan syndrome have normal intelligence, but a few have special educational needs, and some have intellectual disability. Some affected individuals have vision or hearing problems. Affected infants may have feeding problems, which typically get better by age 1 or 2 years.

Who carries the gene for Noonan syndrome?

How Noonan syndrome is inherited. 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 race is Noonan syndrome?

Noonan syndrome (NS) is a common genetic syndrome associated with gain of function variants in genes in the Ras/MAPK pathway. The phenotype of NS has been well characterized in populations of European descent with less attention given to other groups.

What accommodations are needed for Noonan syndrome?

No special accommodations are needed for individuals with NS syndrome, unless required due to the child's learning, medical, sensory and/or behavioral difficulties. Individuals may need extra preparation about what to expect during the activity. Individuals who have NS are not usually limited in their activities.

Is Noonan syndrome rare?

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.

Can you be tall with Noonan syndrome?

Short stature is a very common manifestation of Noonan syndrome (NS) and is accompanied by a variable delay in bone age. Although reports of adult height in NS are uncommon, some feel growth hormone therapy will increase adult height.

What is the difference between Noonan syndrome and Turner syndrome?

Background: Despite different genetic background, Noonan syndrome (NS) shares similar phenotype features to Turner syndrome (TS) such as short stature, webbed neck and congenital heart defects. TS is an entity with decreased growth hormone (GH) responsiveness. Whether this is found in NS is debated.

What is the long term outlook for a child with Noonan syndrome?

The life expectancy of a person with NS is likely to be normal if serious heart defects are absent. About 50% of people with NS have a heart defect since birth such as a hole in the heart (patent ductus arteriosus), heart valve hardening (stenosis), etc.

Does Noonan syndrome affect speech?

Although numerous articles have been published which describe the medical and genetic features of Noonan syndrome, only two describe the speech and language characteristics of such children. Nora et al. ( 1974) examined 25 patients and found articulation deficits in 72% and hearing deficits in 12%.

Can Noonan syndrome be misdiagnosed?

Noonan syndrome is a genetic condition that affects around 1 in every 1,000–2,500 people. The signs and symptoms can vary greatly from person to person, so this condition may be underdiagnosed or even misdiagnosed.