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Genetic and Rare Diseases Information Center (GARD)

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Costello syndrome

Other Names for this Disease
  • Faciocutaneoskeletal syndrome
  • FCS syndrome
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Your Question

What is the life expectancy of an individual with Costello syndrome?

Our Answer

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What is Costello syndrome?

Costello syndrome is characterized by delayed development and intellectual disability, distinctive facial features, loose folds of extra skin (especially on the hands and feet), and unusually flexible joints. Heart abnormalities are common, including an unusually fast heartbeat (tachycardia), structural heart defects, and a form of heart disease that enlarges and weakens the heart muscle (hypertrophic cardiomyopathy). Beginning in early childhood, people with Costello syndrome are at an increased risk of developing certain cancerous and noncancerous tumors. Costello syndrome is caused by mutations in the HRAS gene. It is considered an autosomal dominant condition, but almost all reported cases have resulted from new gene mutations and have occurred in people with no history of the disorder in their family.[1]

The signs and symptoms of Costello syndrome overlap significantly with those of two other genetic conditions, cardiofaciocutaneous (CFC) syndrome and Noonan syndrome. While the three conditions are distinguished by their genetic cause and specific patterns of signs and symptoms, it can be difficult to tell them apart in infancy.[1]

Last updated: 5/24/2011

What is the life expectancy of an individual with Costello syndrome?

It is difficult to predict the life expectancy of someone with Costello syndrome for two reasons:[2] 
  • Costello syndrome was only first described in the 1970s  
  • Costello syndrome is very rare

According to the Costello Syndrome Support Network, there are a number of individuals with Costello syndrome in their twenties and thirties. The oldest person that they have on record was born in 1960.[2]

Morbidity and mortality in Costello syndrome are generally related to complications such as cancer and problems involving the heart.[2]
Last updated: 5/24/2011