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

View Details
Logo
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

View Details
Logo
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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

View Details
Logo
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

View Details
Logo
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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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

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

Go To URL
Reciprocal deletion and duplication of 17p11.2-11.2: Korean patients with Smith-Magenis syndrome and Potocki-Lupski syndrome.
 

Author(s): Cha Gon Lee, Sang-Jin Park, Jun-No Yun, Shin-Young Yim, Young Bae Sohn

Journal: J. Korean Med. Sci.. 2012 Dec;27(12):1586-90.

 

Deletion and duplication of the -3.7-Mb region in 17p11.2 result in two reciprocal syndrome, Smith-Magenis syndrome and Potocki-Lupski syndrome. Smith-Magenis syndrome is a well-known developmental disorder. Potocki-Lupski syndrome has recently been recognized as a microduplication ...

Last Updated: 20 Dec 2012

Go To URL
RAI1 transcription factor activity is impaired in mutants associated with Smith-Magenis Syndrome.
 

Author(s): Paulina Carmona-Mora, Cesar P Canales, Lei Cao, Irene C Perez, Anand K Srivastava, Juan I Young, Katherina Walz

Journal: PLoS ONE. 2012 ;7(9):e45155.

 

Smith-Magenis Syndrome (SMS) is a complex genomic disorder mostly caused by the haploinsufficiency of the Retinoic Acid Induced 1 gene (RAI1), located in the chromosomal region 17p11.2. In a subset of SMS patients, heterozygous mutations in RAI1 are found. Here we investigate the ...

Last Updated: 2 Oct 2012

Go To URL

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 5 free, full-text review articles on human participants. First 3 results:

[Diagnostic difficulties in Smith-Magenis Syndrome (SMS) on the basis of own experience and literature data].
 

Author(s): Agnieszka Stembalska, Aleksandra Jakubiak, Robert Śmigiel

Journal: Med Wieku Rozwoj. ;16(2):138-43.

 

The Smith-Magenis syndrome (SMS) is a rare microdeletion dysmorphic syndrome (interstitial microdeletion of chromosome 17p11.2), which occurs sporadically. Mutations in the RAI1 gene are found in part of the patients. SMS is characterized by intellectual disability and behavioural ...

Last Updated: 13 Sep 2012

Go To URL
Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature.
 

Author(s): Hoa T Truong, Tracy Dudding, Christopher L Blanchard, Sarah H Elsea

Journal:

 

Smith-Magenis syndrome (SMS) is a complex syndrome involving intellectual disabilities, sleep disturbance, behavioural problems, and a variety of craniofacial, skeletal, and visceral anomalies. While the majority of SMS cases harbor an ~3.5 Mb common deletion on 17p11.2 that encompasses ...

Last Updated: 25 Oct 2010

Go To URL
[Smith-Magenis syndrome: case report and review].
 

Author(s): Rubén Bronberg, María Ziembar, Mónica Drut, Ernesto Goldschmidt

Journal: Arch Argent Pediatr. 2008 Apr;106(2):143-6.

 

Smith-Magenis syndrome (SMS) is characterized by distinctive facial features that progress with age, developmental delay, cognitive impairment, and behavioral abnormalities associated with molecular anomaly in 17p11.2. Treatment includes: early childhood intervention programs, special ...

Last Updated: 28 Jul 2008

Go To URL
 
 
Top

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: 26 Jul 2014

Go to URL

Last Updated: 30 Jun 2014

Go to URL

Last Updated: 2 Sep 2014

Go to URL