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Diseases

Genetic and Rare Diseases Information Center (GARD)

Costello syndrome


Other Names for this Disease
  • Faciocutaneoskeletal syndrome
  • FCS syndrome
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Overview

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. Affected people may also have heart abnormalities such as tachycardia, structural heart defects, and 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 changes (mutations) in the HRAS gene. It is considered an autosomal dominant condition; however, almost all reported cases are the result of de novo gene mutations and occur in people with no family history of the condition.[1][2][3] Treatment is based on the signs and symptoms present in each person.[3]

The signs and symptoms of Costello syndrome overlap significantly with those of two other genetic conditions, cardiofaciocutaneous (CFC) syndrome and Noonan syndrome.

Last updated: 3/9/2016

References

  1. Costello syndrome. Genetics Home Reference (GHR). July 2012; http://ghr.nlm.nih.gov/condition/costello-syndrome.
  2. Costello Syndrome. NORD. 2014; http://rarediseases.org/rare-diseases/costello-syndrome/.
  3. Karen W Gripp, MD, FAAP, FACMG and Angela E Lin, MD, FAAP, FACMG. Costello Syndrome. GeneReviews. January 2012; http://www.ncbi.nlm.nih.gov/books/NBK1507/.
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Basic Information

  • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
  • Genetics Home Reference (GHR) contains information on Costello syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Costello syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Faciocutaneoskeletal syndrome
  • FCS syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.