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).
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:
- mental retardation
- coarse features
- hypoplasia or absence of the fifth distal phalanges and finger nails
- feeding difficulties
- muscular hypotonia (floppy baby)
- Dandy-Walker malformation
- agenesis of the corpus callosum
- there is an association with medulloblastoma
Coffin-Siris syndrome should not be confused with Coffin-Lowry syndrome which is X-linked.
- 1. Ewa Guszkiewicz, Aleksandra Jezela- Stanek, El bieta Marsza, Barbara Kalemba, Ewa Jamroz: Coffin-Siris Syndrome In A Four-Year-Old Girl: A Case Presentation. The Internet Journal of Pediatrics and Neonatology. 2005. Volume 5 Number 2.
- 2. Hanauer A. Journal of Medical Genetics.39 (10): . doi:10.1136/jmg.39.10.705
- 3. Bissonnette B, Luginbuehl I, Marciniak B et-al. Syndromes. McGraw-Hill Professional. ISBN:0071354557. Read it at Google Books - Find it at Amazon