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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
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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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.