How rare is Costello syndrome?

How rare is Costello syndrome?

This condition is very rare; it probably affects 200 to 300 people worldwide. Reported estimates of Costello syndrome prevalence range from 1 in 300,000 to 1 in 1.25 million people.

Is Costello syndrome hereditary?

Costello syndrome is inherited as an autosomal dominant genetic condition and is caused my mutations in the HRAS gene. Mutations in this gene result in production of an abnormal H-Ras protein that leads to continuous cell growth and division.

What is Noonan’s syndrome?

Overview. 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 Costello syndrome life expectancy?

Costello syndrome is a lifelong condition. Life expectancy often depends on how severe the heart defect is, and on the other medical complications present.

Why is it called Costello Syndrome?

Costello syndrome happens because of a change (mutation) in a gene called the HRAS gene. The mutation makes cells grow and divide more than they should. Everyone has two copies of the HRAS gene. It only takes one changed gene to cause Costello syndrome.

How does someone get Williams syndrome?

Williams syndrome is usually caused by a random genetic mutation, or error, in chromosome 7. This means that most people with Williams syndrome have not inherited the condition from a parent. People with Williams syndrome have a 50% chance of passing the condition on to each of their offspring.

What is Costello?

Costello syndrome is a rare condition that affects many different parts of the body. Signs and symptoms generally include developmental delay , intellectual disability , distinctive facial features, loose folds of extra skin (especially on the hands and feet), and unusually flexible joints.