Coffin-Siris syndrome

Last revised by Dr Rohit Sharma on 21 Aug 2019

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

Coffin-Siris syndrome should not be confused with Coffin-Lowry syndrome.

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

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:

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

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