How common are RASopathies?

The RASopathies are one of the largest known groups of malformation syndromes, affecting approximately 1 in 1,000 individuals.

What causes RASopathies?

Changes in the genes (our genetic "blueprints") in the RAS pathway cause the RASopathies. These happen when there's a problem in one of the steps in the pathway. Cells react in ways they shouldn't — for instance, multiplying when they should die off. Sometimes, a RASopathy runs in families.

What are the RASopathies?

The RASopathies are a clinically defined group of medical genetic syndromes caused by germline mutations in genes that encode components or regulators of the Ras/mitogen-activated protein kinase (MAPK) pathway.

Is Noonan a RASopathy?

Having a RASopathy syndrome may increase a person's risk of certain types of cancer. RASopathy syndromes include cardiofaciocutaneous syndrome, Costello syndrome, Legius syndrome, neurofibromatosis type 1, Noonan syndrome, and capillary malformation-arteriovenous malformation syndrome.

Is Noonan syndrome genetic?

Noonan syndrome is caused by a genetic mutation and is acquired when a child inherits a copy of an affected gene from a parent (dominant inheritance). It can also occur as a spontaneous mutation, meaning there's no family history involved.

The RASopathies: Ras pathway dysregulation in development (2014)

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. However, other reports indicate that the disorder may affect more than one in 1,000 newborns in the general population.

How long is the average lifespan 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.

Do I have Noonan syndrome?

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.

What is Kabuki syndrome?

Kabuki syndrome is a rare, multisystem disorder characterized by multiple abnormalities including distinctive facial features, growth delays, varying degrees of intellectual disability, skeletal abnormalities, and short stature.

Is Legius syndrome hereditary?

Inheritance. This condition is inherited in an autosomal dominant pattern , which means one copy of the altered gene in each cell is sufficient to cause the disorder.

What is Watson's disease?

Watson syndrome is an autosomal dominant condition characterized by Lisch nodules of the ocular iris, axillary/inguinal freckling, pulmonary valvular stenosis, relative macrocephaly, short stature, and neurofibromas. Watson syndrome is allelic to NF1, the same gene associated with neurofibromatosis type 1.

What causes Costello Syndrome?

Causes. Mutations in the HRAS gene cause Costello syndrome. This gene provides instructions for making a protein called H-Ras, which is part of a pathway that helps control cell growth and division . Mutations that cause Costello syndrome lead to the production of an H-Ras protein that is abnormally turned on (active).

How is neurofibromatosis inherited?

Inheritance. Neurofibromatosis type 1 is considered to have an autosomal dominant pattern of inheritance. People with this condition are born with one mutated copy of the NF1 gene in each cell. In about half of cases, the altered gene is inherited from an affected parent .

What is Johanson Blizzard syndrome?

Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, failure to thrive, hearing loss, mental retardation, hypothyroidism, dental ...

What is Rubinstein syndrome?

Rubinstein-Taybi syndrome is a condition characterized by short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes . Additional features of the disorder can include eye abnormalities, heart and kidney defects, dental problems, and obesity.

What is Apert syndrome?

Apert syndrome, also called acrocephalosyndactyly, is a genetic syndrome characterized by anomalies of the skull, face and limbs. Gene mutations are responsible for causing the early fusion of the skull, hand and feet bones.

How many Noonan's are there?

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

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.

Is Noonan syndrome fatal?

While Noonan syndrome is not life-threatening, if you have the condition you may experience associated illnesses, including heart disease, bleeding disorders, and some types of cancer at some point during your lifetime.

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.

Are there any treatments for Noonan syndrome?

There's no cure for Noonan syndrome, but medical care can help with almost every symptom. For example: Medicines and surgery can help heart problems. Medicines or blood transfusions can treat bleeding.

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 race is Noonan syndrome most common in?

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.

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%).

At what age do neurofibromas appear?

They can be present at birth or may not become noticeable for many years. Although some cutaneous neurofibromas arise in childhood, most start appearing during or after the teenage years. Freckling usually appears by 3 to 5 years of age. Freckles are similar in appearance to café-au-lait spots but are smaller in size.