Coffin Lowry Syndrome

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Table of Contents (click to jump to sections)
What is Coffin Lowry Syndrome?
Is there any treatment?
What is the prognosis?
What research is being done?

Organizations

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?

What is the prognosis?

What research is being done?

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

Organizations

Coffin-Lowry Syndrome Foundation 675 Kalmia Pl NW Issaquah, WA   98027 CoffinLowry@Gmail.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 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: 301-443-4513/866-615-NIMH (-6464) 301-443-8431 (TTY) 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 Foundation 1275 Mamaroneck Avenue White Plains, NY   10605 askus@marchofdimes.com http://www.marchofdimes.com Tel: 914-428-7100 888-MODIMES (663-4637) Fax: 914-428-8203

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Last updated December 11, 2007