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Diseases

Genetic and Rare Diseases Information Center (GARD)

Coffin-Siris syndrome


Other Names for this Disease
  • Fifth digit syndrome
  • Intellectual disability with absent fifth fingernail and terminal phalanx
  • CSS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Tests & Diagnosis

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How is Coffin-Siris syndrome diagnosed?

Diagnosis of Coffin-Siris syndrome is largely based upon the presence or absence of common signs and symptoms in the individual. While formal diagnostic criteria have not been established, most individuals with a clinical diagnosis of Coffin-Siris syndrome have certain features in common.[1] You can find detailed information on this topic at the following link to GeneReviews.
http://www.ncbi.nlm.nih.gov/books/NBK131811/#coffin-siris.Diagnosis

Genetic testing may also be used to diagnose or confirm cases of Coffin-Siris syndrome.[1]
Last updated: 1/5/2016

References
  1. Vergano SS, Santen G, Wieczorek D, Wollnik B, Matsumoto N, Deardorff MA. Coffin-Siris Syndrome. GeneReviews. July 11, 2013; http://www.ncbi.nlm.nih.gov/books/NBK131811/. Accessed 1/5/2016.


Other Names for this Disease
  • Fifth digit syndrome
  • Intellectual disability with absent fifth fingernail and terminal phalanx
  • CSS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.