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NINDS Coffin Lowry Syndrome Information Page


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What is Coffin Lowry Syndrome?

Coffin-Lowry syndrome is a rare genetic disorder characterized by craniofacial (head and facial) and skeletal abnormalities, mental retardation, short stature, and hypotonia. Characteristic facial features may include an underdeveloped upper jaw bone (maxillary hypoplasia), a broad nose, protruding nostrils (nares), an abnormally prominent brow, down-slanting eyelid folds (palpebral fissures), widely spaced eyes (hypertelorism), large low-set ears, and unusually thick eyebrows. Skeletal abnormalities may include abnormal front-to-back and side-to-side curvature of the spine (kyphoscoliosis), unusual prominence of the breastbone (pigeon chest, or pectus carinatum), dental abnormalities, and short, hyperextensible, tapered fingers. Other features may include feeding and respiratory problems, developmental delay, mental retardation, hearing impairment, awkward gait, stimulus-induced drop episodes, and heart and kidney involvement. The disorder affects males and females in equal numbers, but symptoms are usually more severe in males. The disorder is caused by a defective gene, RSK2, which is found in 1996 on the X chromosome (Xp22.2-p22.1). Thus, the syndrome is typically more severe in males because males have only one X chromosome, while females have two. It is unclear how changes (mutations) in the DNA structure of the gene lead to the clinical findings.

Is there any treatment?

There is no cure and no standard course of treatment for Coffin-Lowry syndrome. Treatment is symptomatic and supportive, and may include physical and speech therapy and educational services.

What is the prognosis?

The prognosis for individuals with Coffin-Lowry syndrome varies depending on the severity of symptoms. Early intervention may improve the outlook for patients. Life span is reduced in some individuals with Coffin-Lowry syndrome.

What research is being done?

The NINDS supports and conducts research on genetic disorders, such as Coffin-Lowry syndrome, in an effort to find ways to prevent, treat, and ultimately cure these disorders.

NIH Patient Recruitment for Coffin Lowry Syndrome Clinical Trials

Organizations

Column1 Column2
Coffin-Lowry Syndrome Foundation
675 Kalmia Place, NW
Issaquah, WA   98027
CoffinLowry@Gmail.com
http://clsf.info
Tel: 425-427-0939 (M-F between 6pm and 9 pm PST)

National Organization for Rare Disorders (NORD)
55 Kenosia Avenue
Danbury, CT   06810
orphan@rarediseases.org
http://www.rarediseases.org
Tel: 203-744-0100 Voice Mail 800-999-NORD (6673)
Fax: 203-798-2291

National Institute of Mental Health (NIMH)
National Institutes of Health, DHHS
6001 Executive Blvd. Rm. 8184, MSC 9663
Bethesda, MD   20892-9663
nimhinfo@nih.gov
http://www.nimh.nih.gov
Tel: 301-443-4513/866-415-8051 301-443-8431 (TTY)
Fax: 301-443-4279

The Arc of the United States
1825 K Street, NW
Suite 1200
Washington, DC   20006
Info@thearc.org
http://www.thearc.org
Tel: 202-534-3700 800-433-5255
Fax: 202-534-3731

March of Dimes
1275 Mamaroneck Avenue
White Plains, NY   10605
askus@marchofdimes.com
http://www.marchofdimes.com
Tel: 914-997-4488 888-MODIMES (663-4637)
Fax: 914-428-8203

 


Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892



NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.

All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.

Last updated September 16, 2008