Smith-Magenis syndrome


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Smith-Magenis syndrome

(smĭth′mă-gĕn′ĭs)
[Ann C. M. Smith, contemporary U.S. genetics counselor; Ellen Magenis, contemporary U.S. physician]
A rare form of genetic mental retardation characterized by chronic ear infections, erratic sleep patterns, head banging, picking at skin, and pulling off fingernails and toenails. Location: chromosome 17. Treatment is symptomatic.

Magenis,

Ellen, 20th century U.S. physician.
Smith-Magenis syndrome - see under Smith, Ann CM

Smith,

Ann C.M., 20th century U.S. genetics counselor.
Smith-Magenis syndrome - a rare form of mental retardation.
References in periodicals archive ?
Smith, "Autism spectrum features in Smith-Magenis syndrome," American Journal of Medical Genetics Part C: Seminars in Medical Genetics, vol.
"The Smith-Magenis Syndrome Foundation UK is a small charity that helps support families, and that includes sending information to professionals.
Similarly, using the Smith-Magenis Syndrome (SMS) region FISH probe (orange) as an alternative control gene probe there were 1.85 copies per tumor cell, providing a HER2:SMS ratio of 12.54.
Smith-Magenis Syndrome is a developmental disorder that affects one in 25,000 people worldwide.
Two patients with duplication of 17p11.2: the reciprocal of the Smith-Magenis syndrome deletion?
Genotype phenotype correlation of 30 patients with Smith-Magenis syndrome (SMS) using comparative genome hybridisation array: Cleft palate in SMS is associated with larger deletions.
"It was devastating to hear doctors say our newborn baby had a heart murmur and Smith-Magenis Syndrome."
Topics include sleep and ADHD, headaches, restless legs syndrome, parasomnias, hypersomnias, Smith-Magenis syndrome, autism, psychiatric disorders, brain tumors, narcolepsy, circadian rhythm disorders, epilepsy, traumatic brain injury, sleep-related breathing disorders, and other neurological disorders, as well as sleep co-morbidities, assessment, imaging, pharmacology, and drug development.
Despite her battle with Smith-Magenis Syndrome (SMS) Grace's progress is little short of a miracle.
(13) Finally, high percentages of patients with Smith-Magenis syndrome demonstrated ADHD spectrum behaviors, such as impulsivity (86%), distractibility (89%) and hyperactivity (94%).
The third tier comprises MECP2 gene testing; 15-interphase fluorescence in situ hybridization (FISH); 15-methylation/FISH for Prader-Willi, Angelman's, and other syndromes; 17q FISH for Smith-Magenis syndrome; serum and urine uric-acid tests; and a subtelomeric FISH panel if the IQ is below 50.

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