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.

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 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 serious?

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 do babies with Noonan syndrome look like?

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.

Noonan syndrome - Usmle step 1

Is Noonan syndrome like autism?

Few reports have described the psychiatric co-morbidity of Noonan syndrome. While mental retardation is a common feature of Noonan syndrome, the diagnosis of autism using operational criteria has not been reported. In this paper, the authors describe the association of Noonan syndrome with autism.

Is Noonan syndrome a form of 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%).

Is Noonan's hereditary?

Noonan syndrome is most often an autosomal dominant genetic disorder caused by abnormalities (mutations) in several different genes, the main ones being: PTPN11, KRAS, SOS1 RIT1 and RAF1.

Does Noonan syndrome have mental retardation?

The cardinal features of Noonan syndrome include unusual facies (ie, hypertelorism, down-slanting eyes, webbed neck), congenital heart disease, short stature, and chest deformity. Approximately 25% of individuals with Noonan syndrome have mental retardation.

Does Noonan syndrome affect behavior?

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 part of the body does Noonan syndrome affect?

Noonan syndrome is present in about 1 in 1,000 to 1 in 2,500 people. 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 is Noonan diagnosed?

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.

Can you detect Noonan syndrome before birth?

Although prenatal diagnosis of Noonan syndrome is usually not possible, in a few cases the ultrasonographic findings suggested the diagnosis in utero. Reported sonographic clues include septated cystic hygroma, hydrothorax, polyhydramnios, and cardiac defects, such as pulmonic stenosis and hypertrophic cardiomyopathy.

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

Some affected children may also have other ongoing health problems such as problems urinating, blood disorders, etc. However, with special care and counselling, the majority of children with NS grow up and function normally as adults. The long-term prognosis of people with Noonan syndrome is variable.

What causes wide set eyes in babies?

In normal development, the eye sockets (orbits) develop laterally and rotate to their normal midline position. In orbital hypertelorism, the eye sockets fail to rotate into their normal position, resulting in wide-set eyes with extra bone between the eyes.

What is a webbed neck?

Ontology: Neck webbing (C0221217)

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.

Does Noonan syndrome qualify for disability?

The majority of children who are diagnosed with Noonan syndrome have average intelligence, although a small percentage have special educational needs, and some experience intellectual disability.

What is another name for Noonan syndrome?

Other names. Male Turner syndrome, Noonan–Ehmke syndrome, Turner-like syndrome, Ullrich–Noonan syndrome.

Does my baby 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.

Why does my child have short neck?

A baby born with Noonan syndrome may have a short neck, with excess skin where the neck joins the shoulders. This can make the neck seem broad and is sometimes called “webbing.” Frequently there are differences in the eyes, including strabismus (cross-eyedness), nystagmus (eye tremors) and very bright blue-green iris.

How common is noonans?

Estimates vary, but it is thought that between one in 1,000 to one in 5,000 children have Noonan syndrome, with males and females equally affected. Genetic changes on several genes are known to cause Noonan syndrome, but the diagnosis is usually established on the basis of clinical features.

What are the characteristics of Williams syndrome?

Newborns with Williams syndrome have characteristic “elfin-like” facial features including an unusually small head (microcephaly), full cheeks, an abnormally broad forehead, puffiness around the eyes and lips, a depressed nasal bridge, broad nose, and/or an unusually wide and prominent open mouth.

What type of doctors treat Noonan syndrome?

If it's suspected that you or your child has Noonan syndrome, you're likely to start by seeing your primary care doctor or your child's pediatrician. However, depending on the signs and symptoms, you or your child may be referred to a specialist — for example, a cardiologist or a geneticist.

Can Noonan syndrome be cured?

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.

What syndrome has slanted eyes?

Abnormal slanting of the eye may occur with some genetic disorders and syndromes. The most common of these is Down syndrome. People with Down syndrome often also have an epicanthal fold in the inner corner of the eye.