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Coffin Lowry Syndrome

Abstract

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Synonyms of Coffin Lowry Syndrome

Coffin Syndrome
Mental Retardation with Osteocartilaginous Abnormalities

Disorder Subdivisions

No subdivisions found.

General Discussion

Coffin-Lowry syndrome is a rare genetic disorder characterized by mental retardation; abnormalities of the head and facial (craniofacial) area; large, soft hands with short, thin (tapered) fingers; short stature; and/or various skeletal abnormalities. Characteristic facial features may include an underdeveloped upper jawbone (maxillary hypoplasia), an abnormally prominent brow, downslanting eyelid folds (palpebral fissures), widely spaced eyes (hypertelorism), large ears, and/or unusually thick eyebrows. Skeletal abnormalities may include abnormal front-to-back and side-to-side curvature of the spine (kyphoscoliosis) and unusual prominence of the breastbone (sternum) (pectus carinatum). Coffin-Lowry syndrome is caused by mutations in the RSK2 gene and is inherited as an X-linked dominant genetic trait. Males are usually more severely affected than females.

Organizations related to Coffin Lowry Syndrome

Coffin-Lowry Syndrome Foundation
- 675 Kalmia Pl NW
- Issaquah, WA 98027
- Phone #: 425-427-0939
- 800 #: --
- e-mail: CoffinLowry@gmail.com
- Home page: http://www.clsf.info
Genetic and Rare Diseases (GARD) Information Center
- PO Box 8126
- Gaithersburg, MD 20898-8126
- Phone #: 301-251-4925
- 800 #: 888-205-2311
- e-mail: N/A
- Home page: http://rarediseases.info.nih.gov/GARD/
Madisons Foundation
- PO Box 241956
- Los Angeles, CA 90024
- Phone #: 310-264-0826
- 800 #: N/A
- e-mail: getinfo@madisonsfoundation.org
- Home page: http://www.madisonsfoundation.org
MUMS National Parent-to-Parent Network
- 150 Custer Court
- Green Bay, WI 54301-1243 USA
- Phone #: N/A
- 800 #: N/A
- e-mail: mums@netnet.net
- Home page: http://www.netnet.net/mums/
NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
- Information Clearinghouse
- One AMS Circle
- Bethesda, MD 20892-3675 USA
- Phone #: 301-495-4484
- 800 #: 877-226-4267
- e-mail: NIAMSinfo@mail.nih.gov
- Home page: http://www.niams.nih.gov/
NIH/National Institute of Neurological Disorders and Stroke
- P.O. Box 5801
- Bethesda, MD 20824
- Phone #: 301-496-5751
- 800 #: 800-352-9424
- e-mail: N/A
- Home page: http://www.ninds.nih.gov/
The Arc
- 1825 K Street NW, Suite 1200
- Washington, DC 20006
- Phone #: 202-534-3700
- 800 #: 800-433-5255
- e-mail: info@thearc.org
- Home page: http://www.thearc.org

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