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Diseases

Genetic and Rare Diseases Information Center (GARD)

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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. Criteria has been established to help with diagnosis. Genetic testing may also be used to diagnose or confirm cases of Coffin-Siris syndrome. 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
Last updated: 9/13/2013

References
  1. Vergano SS, Santen G, Wieczorek D, Wollnik B, Matsumoto N, Deardorff MA. Coffin-Siris Syndrome. GeneReviews. April 4, 2013; http://www.ncbi.nlm.nih.gov/books/NBK131811/. Accessed 9/13/2013.