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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General Support Organizations

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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 46 free, full-text research articles on human participants. First 3 results:

Auditory Phenotype of Smith-Magenis Syndrome.
 

Author(s): Megan A Brendal, Kelly A King, Christopher K Zalewski, Brenda M Finucane, Wendy Introne, Carmen C Brewer, Ann C M Smith

Journal: J. Speech Lang. Hear. Res.. 2017 04;60(4):1076-1087.

 

The purpose of this study was to describe the auditory phenotype of a large cohort with Smith-Magenis syndrome (SMS), a rare disorder including physical anomalies, cognitive deficits, sleep disturbances, and a distinct behavioral phenotype.

Last Updated: 31 Dec 1969

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Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.
 

Author(s): Seth I Berger, Carla Ciccone, Karen L Simon, May Christine Malicdan, Thierry Vilboux, Charles Billington, Roxanne Fischer, Wendy J Introne, Andrea Gropman, Jan K Blancato, James C Mullikin, , William A Gahl, Marjan Huizing, Ann C M Smith

Journal: Hum. Genet.. 2017 04;136(4):409-420.

 

Smith-Magenis syndrome (SMS), a neurodevelopmental disorder characterized by dysmorphic features, intellectual disability (ID), and sleep disturbances, results from a 17p11.2 microdeletion or a mutation in the RAI1 gene. We performed exome sequencing on 6 patients with SMS-like phenotypes ...

Last Updated: 31 Dec 1969

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Prenatal diagnosis of Smith-Magenis syndrome in two fetuses with increased nuchal translucency, mild lateral ventriculomegaly, and congenital heart defects.
 

Author(s): Ting-Ying Lei, Ru Li, Fang Fu, Jun-Hui Wan, Yong-Ling Zhang, Xiang-Yi Jing, Can Liao

Journal: Taiwan J Obstet Gynecol. 2016 Dec;55(6):886-890.

 

Smith-Magenis syndrome (SMS) is a multiple congenital anomalies/mental retardation disorder characterized by an interstitial deletion involving chromosome 17p11.2 containing the retinoic acid-induced 1 (RAI1) gene or due to mutation of RAI1. Few cases have been reported in the medical ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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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: 31 Dec 1969

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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: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Development of Clinical Database of Individuals With Smith-Magenis Syndrome and Sleep Disturbances
 

Status: Recruiting

Condition Summary: Sleep Disturbances in Smith-Magenis Syndrome

 

Last Updated: 12 May 2017

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Melatonin in Adults With SMS
 

Status: Recruiting

Condition Summary: Smith Magenis Syndrome

 

Last Updated: 9 Apr 2018

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Natural History Study of Smith-Magenis Syndrome
 

Status: Recruiting

Condition Summary: Chromosome Abnormalities; Smith Magenis Syndrome

 

Last Updated: 8 Aug 2018

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