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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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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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

Last Updated: 22 Apr 2015

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General Support Organizations

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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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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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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

http://www.pediatricbrainfoundation.org

Last Updated: 22 Apr 2015

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

Mechanical ventilation in Coffin-Lowry syndrome: a case report.
 

Author(s): Edmilson Bastos de Moura, Érica Leal Teixeira de Moura, Fábio Ferreira Amorim, Vânia Maria Oliveira

Journal: Rev Bras Ter Intensiva. ;28(4):483-487.

 

We describe a 27-year-old patient with Coffin-Lowry syndrome with severe community pneumonia, septic shock and respiratory failure. We summarize both the mechanical ventilatory assistance and the hospitalization period in the intensive care unit.

Last Updated: 31 Dec 1969

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Eight years of follow-up after laminectomy of calcium pyrophosphate crystal deposition in the cervical yellow ligament of patient with Coffin-Lowry syndrome: A case report.
 

Author(s): Tadao Morino, Tadanori Ogata, Hideki Horiuchi, Shintaro Yamaoka, Mitsumasa Fukuda, Hiromasa Miura

Journal: Medicine (Baltimore). 2016 Aug;95(31):e4468.

 

We report 8 years of follow-up after decompression to treat cervical myelopathy in a patient with Coffin-Lowry syndrome (CLS). CLS is a rare X-linked semidominant syndrome associated with growth and psychomotor retardation, general hypotonia, and skeletal abnormalities. In this patient, ...

Last Updated: 31 Dec 1969

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Drop episodes improved after tracheotomy: a case of Coffin-Lowry syndrome associated with obstructive sleep apnea syndrome.
 

Author(s): G Imataka, I Nakajima, K Goto, W Konno, H Hirabayashi, O Arisaka

Journal: Eur Rev Med Pharmacol Sci. 2016 ;20(3):498-501.

 

Some cases of Coffin-Lowry syndrome recognized episodic drops and it tended to be intractable for medical treatment. We reported here a patient with the Coffin-Lowry syndrome associated with obstructive sleep apnea syndrome (OSAS). The patient had epileptic seizures and drop attacks ...

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 "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: 31 Dec 1969

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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: 31 Dec 1969

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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: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.