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