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 ?
The Smith-Magenis Syndrome Foundation UK is a small charity that helps support families, and that includes sending information to professionals.
The results came back saying he had Smith-Magenis Syndrome (SMS).
Clinical and chromosome studies of three patients with Smith-Magenis syndrome.
Mencap is important to Steve as his daughter suffers from Smith-Magenis Syndrome - a disorder which can cause intellectual disability, delayed speech and language skills and behavioural problems.
Cash raised will go to Laura Stock, a six year-old from Hinckley, Leicestershire, who suffers from the rare Smith-Magenis Syndrome.
R Our 15 year old daughter, who has Smith-Magenis syndrome and chronic intestinal pseudo-obstruction, has had in-home caregiver-friends for the past five years.
Megan McKim, eight, suffers from rare Smith-Magenis Syndrome, which causes learning and behaviour difficulties.
Recently, a friend of mine who is a nurse at a genetics clinic in a different city mentioned Smith-Magenis syndrome as a possible diagnosis for my daughter.
PRISMS: Parents & Researchers Interested in Smith-Magenis Syndrome 11875 Fawn Ridge Ln Reston, VA 22094 (703) 709-0568 [envelop] acmsmith@nchgr.
One technology is chromosomal microarray analysis, which has opened the possibility of detecting a wide range of disease-causing copy-number variants (CNVs), such as those causing DiGeorge, Williams, and Smith-Magenis syndromes.

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