The Coffin-Siris syndrome: A proposed diagnostic approach and assessment of 15 overlapping cases

Samantha A. Schrier, Joann N. Bodurtha, Barbara Burton, Albert E. Chudley, Mary Anne D. Chiong, Maria Gabriella D'avanzo, Sally Ann Lynch, Antonio Musio, Dmitriy M. Nyazov, Pedro A. Sanchez-Lara, Stavit A. Shalev, Matthew A. Deardorff*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

63 Scopus citations


Coffin-Siris syndrome (CSS) is a rare, clinically heterogeneous disorder often considered in the setting of cognitive/developmental delay and 5th finger/nail hypoplasia. Due to the clinical variability of facial and other features, this diagnosis is often difficult to confirm clinically and the existence of this disorder as a specific diagnosis has been at times an issue of debate. In an effort to further delineate the spectrum and key phenotypic features, we reviewed 80 previously reported cases to define features in patients that most closely correlated with a convincing diagnosis. There appear to be two subtypes of CSS, one which displays the classic coarse facial features previously described; another displays variant facial features which are less striking. Using these features, we defined an algorithm to rank the confidence of diagnosis and applied it to 15 additional patients who had been previously characterized by chromosome microarray. This approach will also facilitate uniform categorization for whole-exome analysis.

Original languageEnglish (US)
Pages (from-to)1865-1876
Number of pages12
JournalAmerican Journal of Medical Genetics, Part A
Volume158 A
Issue number8
StatePublished - Aug 2012


  • 5th digit hypoplasia
  • Algorithm
  • Coffin-Siris syndrome
  • Cognitive delay
  • Developmental delay

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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