Smith-Magenis syndrome

Common Name(s)

Smith-Magenis syndrome

Smith-Magenis syndrome is a developmental disorder that affects many parts of the body. The major features of this condition include mild to moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems. Most people with Smith-Magenis syndrome have a deletion of genetic material from a specific region of chromosome 17. Although this region contains multiple genes, researchers believe that the loss of one particular gene, RAI1, in each cell is responsible for most of the characteristic features of the condition. Smith-Magenis syndrome is not typically inherited, but results from a genetic change that occurs during the formation of reproductive cells (eggs or sperm) or in early fetal development.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Smith-Magenis syndrome" for support, advocacy or research.

Parents and Researchers Interested in Smith-Magenis Syndrome

PRISMS is dedicated to providing information and support to families of persons with Smith-Magenis syndrome and fostering partnerships with professionals to increase awareness and understanding.

Last Updated: 16 Jan 2013

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SMS Research Foundation

Our mission is to support research to improve the knowledge and understanding of SMS so that viable therapeutic options can be developed in order to improve the quality of life of those with SMS.

Last Updated: 25 Apr 2013

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Taylor Bug Kisses Foundation

Taylor Bug Kisses Foundation is a 501(c)3 charity that is dedicated to providing funding for medical research, providing financial assistance, individual education plan assistance and emotional support for families who have a child with Smith-Magenis Syndrome.

Last Updated: 26 Mar 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Smith-Magenis syndrome" for support, advocacy or research.

Parents and Researchers Interested in Smith-Magenis Syndrome

PRISMS is dedicated to providing information and support to families of persons with Smith-Magenis syndrome and fostering partnerships with professionals to increase awareness and understanding.

http://www.prisms.org

Last Updated: 16 Jan 2013

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SMS Research Foundation

Our mission is to support research to improve the knowledge and understanding of SMS so that viable therapeutic options can be developed in order to improve the quality of life of those with SMS.

http://www.smsresearchfoundation.org

Last Updated: 25 Apr 2013

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Taylor Bug Kisses Foundation

Taylor Bug Kisses Foundation is a 501(c)3 charity that is dedicated to providing funding for medical research, providing financial assistance, individual education plan assistance and emotional support for families who have a child with Smith-Magenis Syndrome.

http://www.taylorbugkisses.com

Last Updated: 26 Mar 2013

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Smith-Magenis syndrome" returned 41 free, full-text research articles on human participants. First 3 results:

Behavioral disturbance and treatment strategies in Smith-Magenis syndrome.
 

Author(s): Alice Poisson, Alain Nicolas, Pierre Cochat, Damien Sanlaville, Caroline Rigard, Hélène de Leersnyder, Patricia Franco, Vincent Des Portes, Patrick Edery, Caroline Demily

Journal:

 

Smith-Magenis syndrome is a complex neurodevelopmental disorder that includes intellectual deficiency, speech delay, behavioral disturbance and typical sleep disorders. Ninety percent of the cases are due to a 17p11.2 deletion encompassing the RAI1 gene; other cases are linked to ...

Last Updated: 4 Sep 2015

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Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity.
 

Author(s): David R Adams, Hongjie Yuan, Todd Holyoak, Katrina H Arajs, Parvin Hakimi, Thomas C Markello, Lynne A Wolfe, Thierry Vilboux, Barbara K Burton, Karin Fuentes Fajardo, George Grahame, Conisha Holloman, Murat Sincan, Ann C M Smith, Gordon A Wells, Yan Huang, Hugo Vega, James P Snyder, Gretchen A Golas, Cynthia J Tifft, Cornelius F Boerkoel, Richard W Hanson, Stephen F Traynelis, Douglas S Kerr, William A Gahl

Journal: Mol. Genet. Metab.. 2014 Nov;113(3):161-70.

 

The National Institutes of Health Undiagnosed Diseases Program evaluates patients for whom no diagnosis has been discovered despite a comprehensive diagnostic workup. Failure to diagnose a condition may arise from the mutation of genes previously unassociated with disease. However, ...

Last Updated: 2 Dec 2014

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Circadian abnormalities in mouse models of Smith-Magenis syndrome: evidence for involvement of RAI1.
 

Author(s): Melanie Lacaria, Wenli Gu, James R Lupski

Journal: Am. J. Med. Genet. A. 2013 Jul;161A(7):1561-8.

 

Smith-Magenis syndrome (SMS; OMIM 182290) is a genomic disorder characterized by multiple congenital anomalies, intellectual disability, behavioral abnormalities, and disordered sleep resulting from an ~3.7 Mb deletion copy number variant (CNV) on chromosome 17p11.2 or from point ...

Last Updated: 20 Jun 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Smith-Magenis syndrome" returned 8 free, full-text review articles on human participants. First 3 results:

Smith-Magenis syndrome and its circadian influence on development, behavior, and obesity - own experience.
 

Author(s): Li Chen, Sureni V Mullegama, Joseph T Alaimo, Sarah H Elsea

Journal: Dev Period Med. ;19(2):149-56.

 

Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by sleep disturbance, multiple developmental anomalies, psychiatric behavior, and obesity. It is caused by a heterozygous 17p11.2 microdeletion containing the retinoic acid-induced 1 (RAI1) gene or mutation within ...

Last Updated: 19 Sep 2015

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Congenital scoliosis in Smith-Magenis syndrome: a case report and review of the literature.
 

Author(s): Zheng Li, Jianxiong Shen, Jinqian Liang, Lin Sheng

Journal: Medicine (Baltimore). 2015 May;94(17):e705.

 

The Smith-Magenis syndrome (SMS) is a complex and rare congenital condition that is characterized by minor craniofacial anomalies, short stature, sleep disturbances, behavioral, and neurocognitive abnormalities, as well as variable multisystemic manifestations. Little is reported ...

Last Updated: 1 May 2015

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Immune complex-mediated autoimmunity in a patient With Smith-Magenis syndrome (del 17p11.2).
 

Author(s): Jianying Yang, Settara C Chandrasekharappa, Thierry Vilboux, Ann C M Smith, Erik J Peterson

Journal: J Clin Rheumatol. 2014 Aug;20(5):291-3.

 

Smith-Magenis syndrome (SMS) is a sporadic congenital disorder involving multiple organ systems caused by chromosome 17p11.2 deletions. Smith-Magenis syndrome features craniofacial and skeletal anomalies, cognitive impairment, and neurobehavioral abnormalities. In addition, some SMS ...

Last Updated: 25 Jul 2014

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Natural History Study of Smith-Magenis Syndrome
 

Status: Recruiting

Condition Summary: Chromosome Abnormalities; Smith Magenis Syndrome

 

Last Updated: 11 May 2016

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Treatment Strategies for Children With Smith-Magenis Syndrome
 

Status: Recruiting

Condition Summary: Developmental Delay Disorders; Chromosome Deletion; Mental Retardation; Sleep Disorders, Circadian Rhythm; Self Injurious Behavior

 

Last Updated: 13 Feb 2016

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Evaluating the Effects of Tasimelteon vs Placebo on Sleep Disturbances in SMS
 

Status: Recruiting

Condition Summary: Smith-Magenis Syndrome; Circadian

 

Last Updated: 12 May 2016

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