Encyclopedia of Molecular Mechanisms of Disease

2009 Edition
| Editors: Florian Lang

Smith-Magenis Syndrome

  • Sarah H. Elsea
  • Santhosh Girirajan
Reference work entry
DOI: https://doi.org/10.1007/978-3-540-29676-8_1640

Synonyms

SMS; del(17)p11.2; del(17)(p11.2p11.2); RAI1 mutation

Definition and Characteristics

Smith-Magenis syndrome is a complex neurobehavioral disorder that includes mild to moderate mental retardation, sleep disturbance due to inverted circadian rhythm of melatonin, infantile hypotonia and feeding difficulties. Craniofacial and skeletal abnormalities are common, including brachycephaly, broad nasal bridge, flat midface, tented upper lip, synophrys, hypertelorism, abnormally shaped or low-set ears, and brachydactyly. Hearing loss (both conductive and sensorineural), speech delay (expressive language >> receptive language), motor delay, and hypercholesterolemia are also common. Eye findings include myopia, strabismus, microcornea, nystagmus, cataracts, retinal detachment, and iris anomalies. With age, prognathism, scoliosis, and a hoarse, deep voice become more apparent [ 1]. Other features include cardiac defects (ventricular septal defect, atrial septal defect, aortic stenosis,...
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References

  1. 1.
    Greenberg F, Lewis RA, Potocki L, Glaze D, Parke J, Killian J, Murphy MA, Williamson D, Brown F, Dutton R, McCluggage C, Friedman E, Sulek M, Lupski JR (1996) Am J Med Genet 62:247–254PubMedGoogle Scholar
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    Slager RE, Newton TL, Vlangos CN, Finucane B, Elsea SH (2003) Nat Genet 33:466–468PubMedGoogle Scholar
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    Vlangos CN, Yim DK, Elsea SH (2003) Mol Genet Metab 79:134–141PubMedGoogle Scholar
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    Lee JA, Lupski JR (2006) Neuron 52:103–121PubMedGoogle Scholar
  5. 5.
    Girirajan S, Vlangos CN, Szomju BB, Edelman E, Trevors CD, Dupuis L, Nezarati M, Bunyan DJ, Elsea SH (2006) Genet Med 8:417–427PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag GmbH Berlin Heidelberg 2009

Authors and Affiliations

  • Sarah H. Elsea
    • 1
  • Santhosh Girirajan
    • 1
  1. 1.Departments of Pediatrics and Human Genetics, Medical College of Virginia CampusVirginia Commonwealth UniversityRichmondUSA