Smith-Magenis syndrome
Definition
Smith-Magenis syndrome (SMS) is a relatively rare genetic disorder characterized by a specific pattern of physical, behavioral, and developmental features. First described in 1982 by Ann C.M. Smith (a genetics counselor) and Ellen Magenis (a physician and chromosome expert), the syndrome results from a deletion on chromosome 17, specifically referred to as deletion 17p11.2.
Description
Until the mid 1990s, SMS was not a well-known disorder, even among genetics experts; the chromosome deletion is small (a microdeletion) and difficult to detect. Most individuals are not diagnosed until they receive specialized genetic tests, usually in mid-childhood or adulthood.
Smith-Magenis syndrome causes multiple birth defects (congenital abnormalities) as well as moderate to severe...
[The entire page is 2053 words long]
Join eNotes
Over 3,500 study guides, question and answer forums, literature criticism, reference content, and much more!
