Coffin-Siris syndrome

Coffin-Siris syndrome, first described in 1970, is a rare genetic abnormality. 

It occurs more frequently in females (with a M:F of ~4:1).

Genetics

It is thought most likely to relate to a gene on chromosome 7, however its exact location has yet to be determined.

One of the most typical features is absence or hypoplasia of the nails of the fifth fingers, thus the alternative name of “fifth digit syndrome”.

Most frequent findings include:

Coffin-Siris syndrome should not be confused with Coffin-Lowry syndrome which is X-linked.

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Article Information

rID: 5337
Section: Syndromes
Synonyms or Alternate Spellings:
  • Coffin Siris syndrome

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