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?

What is the prognosis?

What research is being done?

NIH Patient Recruitment for Coffin Lowry Syndrome Clinical Trials

• At NIH Clinical Center
• Throughout the U.S. and Worldwide

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: 301-443-4513/866-415-8051 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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National Institute of Neurological Disorders and Stroke
National Institutes of Health
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Last updated September 16, 2008