Coffin-Siris syndrome, first described in 1970, is a rare genetic abnormality.
Coffin-Siris syndrome should not be confused with Coffin-Lowry syndrome.
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Epidemiology
It occurs more frequently in females (with a M:F of ~4:1).
Clinical presentation
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:
intellectual disability
coarse features
hypertrichosis
hypoplasia or absence of the fifth distal phalanges and finger-nails
feeding difficulties
muscular hypotonia (floppy baby)
there is an association with medulloblastoma
Pathology
Genetics
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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