Article: Coffin Lowry Syndrome Information Page

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, downslanting eyelid folds (palpebral fissures), widely spaced eyes (hypertelorism), large 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 (pectus carinatum), and short, hyperextensible, tapered fingers. Additional abnormalities may also be present. Other features may include feeding and respiratory problems, developmental delay, mental retardation, hearing impairment, awkward gait, flat feet, and heart and kidney involvement. The disorder affects males and females in equal numbers, however, symptoms may be more severe in males. Females may show mild mental retardation. The disorder is caused by a defective gene, RSK2, which was found in 1996 on the X chromosome (Xp22.2-p22.1). The gene codes for a member of a growth factor regulated protein kinase. 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.

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.

Select this link to view a list of studies currently seeking patients.

Organizations

Coffin-Lowry Syndrome Foundation
3045 255th Avenue SE
Sammamish, WA   98075
CLSFoundation@yahoo.com
http://clsf.info
Tel: 425-427-0939 (M-F after 6pm PST)

National Organization for Rare Disorders (NORD)
P.O. Box 1968
(55 Kenosia Avenue)
Danbury, CT   06813-1968
orphan@rarediseases.org
http://www.rarediseases.org
Tel: 203-744-0100 Voice Mail 800-999-NORD (6673)
Fax: 203-798-2291

National Institute of Child Health and Human Development (NICHD)
National Institutes of Health, DHHS
31 Center Drive, Rm. 2A32 MSC 2425
Bethesda, MD   20892-2425
http://www.nichd.nih.gov
Tel: 301-496-5133
Fax: 301-496-7101

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: 301-443-4513/301-443-8431 (TTY) 866-615-NIMH (-6464)
Fax: 301-443-4279

The Arc of the United States
1010 Wayne Avenue
Suite 650
Silver Spring, MD   20910
Info@thearc.org
http://www.thearc.org
Tel: 301-565-3842
Fax: 301-565-3843 or -5342

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY   10605
askus@marchofdimes.com
www.marchofdimes.com
Tel: 914-428-7100 888-MODIMES (663-4637)
Fax: 914-428-8203


Source: National Institute of Neurological Disorders and Stroke
Cache Date: December 16, 2004