Coffin-Lowry Syndrome

Common Name(s)

Coffin-Lowry Syndrome

Coffin-Lowry syndrome is a genetic condition that affects many parts of the body. The signs and symptoms and severity vary from person to person; however, males are typically more severely affected than females. Signs and symptoms may include distinct facial findings, short stature, microcephaly, kyphoscoliosis, other skeletal abnormalities, stimulus-induced drop episodes, intellectual disability and delayed development. Mutations in the RPS6KA3 gene cause the syndrome. It is inherited in an X-linked dominant fashion. Treatment is symptomatic.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Coffin-Lowry Syndrome" for support, advocacy or research.

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CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

Last Updated: 12 Oct 2013

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Coffin-Lowry Syndrome Foundation

The purpose of CLSF is to provide a clearinghouse for information on Coffin-Lowry Syndrome (CLS), and to provide families affected by CLS a general forum in which to exchange information, ideas and advice.

Last Updated: 3 Oct 2012

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Coffin-Lowry Syndrome" for support, advocacy or research.

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CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

http://www.cnsfoundation.org

Last Updated: 12 Oct 2013

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Coffin-Lowry Syndrome Foundation

The purpose of CLSF is to provide a clearinghouse for information on Coffin-Lowry Syndrome (CLS), and to provide families affected by CLS a general forum in which to exchange information, ideas and advice.

http://www.clsf.info

Last Updated: 3 Oct 2012

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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 "Coffin-Lowry Syndrome" returned 17 free, full-text research articles on human participants. First 3 results:

Coffin-Lowry syndrome: a role for RSK2 in mammalian neurogenesis.
 

Author(s): Chandrasagar B Dugani, Annie Paquin, David R Kaplan, Freda D Miller

Journal: Dev. Biol.. 2010 Nov;347(2):348-59.

 

Coffin-Lowry Syndrome (CLS) is an X-linked genetic disorder associated with cognitive and behavioural impairments. CLS patients present with loss-of-function mutations in the RPS6KA3 gene encoding the mitogen-activated protein kinase (MAPK)-activated kinase p90 ribosomal S6 kinase ...

Last Updated: 19 Oct 2010

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Altered neurodevelopment associated with mutations of RSK2: a morphometric MRI study of Coffin-Lowry syndrome.
 

Author(s): Shelli R Kesler, Richard J Simensen, Kytja Voeller, Fatima Abidi, Roger E Stevenson, Charles E Schwartz, Allan L Reiss

Journal: Neurogenetics. 2007 Apr;8(2):143-7.

 

Coffin-Lowry syndrome (CLS) is a rare form of X-linked mental retardation caused by mutations of the RSK2 gene, associated with cognitive impairment and skeletal malformations. We conducted the first morphometric study of CLS brain morphology by comparing brain volumes from two CLS ...

Last Updated: 5 Mar 2007

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Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation.
 

Author(s): M Field, P Tarpey, J Boyle, S Edkins, J Goodship, Y Luo, J Moon, J Teague, M R Stratton, P A Futreal, R Wooster, F L Raymond, G Turner

Journal: Clin. Genet.. 2006 Dec;70(6):509-15.

 

We describe three families with X-linked mental retardation, two with a deletion of a single amino acid and one with a missense mutation in the proximal domain of the RSK2(RPS6KA3) (ribosomal protein S6 kinase, 90 kDa, polypeptide 3) protein similar to mutations found in Coffin-Lowry ...

Last Updated: 14 Nov 2006

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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 "Coffin-Lowry Syndrome" returned 4 free, full-text review articles on human participants. First 3 results:

Coffin-Lowry syndrome.
 

Author(s): Patricia Marques Pereira, Anne Schneider, Solange Pannetier, Delphine Heron, André Hanauer

Journal: Eur. J. Hum. Genet.. 2010 Jun;18(6):627-33.

 

Coffin-Lowry syndrome (CLS) is a syndromic form of X-linked mental retardation, which is characterized in male patients by psychomotor and growth retardation and various skeletal anomalies. Typical facial changes and specific clinical and radiological signs in the hand are useful ...

Last Updated: 21 May 2010

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Coffin-Lowry syndrome: odontologic characteristics. Review of the literature and presentation of a clinical case.
 

Author(s): J Lopez-Jimenez, M-J Gimenez-Prats

Journal: Med Oral. ;8(1):51-6.

 

A description is made of the general and odontologic characteristics of Coffin-Lowry syndrome, with a review of the literature and the report of a clinical case.

Last Updated: 30 Jan 2003

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Coffin-Lowry syndrome: clinical and molecular features.
 

Author(s): A Hanauer, I D Young

Journal: J. Med. Genet.. 2002 Oct;39(10):705-13.

 

The Coffin-Lowry syndrome (CLS) is a rare X linked disorder in which affected males show severe mental retardation with characteristic dysmorphism, most notably affecting the face and hands. The typical facial features consist of a prominent forehead, hypertelorism, a flat nasal bridge, ...

Last Updated: 3 Oct 2002

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.