Iconic Symptoms Of Smith-Magenis Syndrome

Smith-Magenis syndrome is a disorder that affects the development of an individual in numerous different ways. This condition is the result of a genetic deletion that occurs on chromosome 17 in every cell in the body. Most of the features that manifest in Smith-Magenis syndrome can be attributed to the absence of the RAI1 gene on chromosome 17. A small percentage of cases are due to inherited gene deletion or mutation from one parent, while the remainder of cases results from a spontaneous genetic deletion or mutation in utero. Medical history, physical examination, and cytogenetic testing of the blood for gene deletions and mutations are utilized to diagnose Smith-Magenis syndrome. Treatment of this disorder is a collaborative effort with a team of different types of physicians and professionals to manage symptoms and prevent complications.