Coffin-Siris syndrome
Definition
Coffin-Siris syndrome is a rare congenital disorder that affects more females than males. Individuals with this syndrome have some degree of mental retardation or developmental delay, a coarse facial appearance, incompletely formed or absent fifth fingernails, and absent fifth fingers (distal phalanges). The cause of this disorder is unknown, and the severity of symptoms varies by individual.
Description
Coffin-Siris syndrome was first described in 1970 by Dr. Grange S. Coffin and Dr. Evelyn Siris. It may also be known as fifth digit syndrome. The cause of the disorder is unknown, and the combination of symptoms may vary by individual. All affected children have some form of mental retardation or developmental delay, and incompletely formed (hypoplastic) or absent fifth...
[The entire page is 1442 words long]
Join eNotes
Over 3,500 study guides, question and answer forums, literature criticism, reference content, and much more!
