Spherophakia brachymorphia syndrome
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Weill-Marchesani syndrome is an inherited connective tissue disorder characterized by both skeletal and ocular (eye) manifestations. Skeletal manifestations include short stature; brachdactyly; and limited joint mobility, especially of the hands. The primary ocular manifestation is microspherophakia (small and relatively spherical crystalline lens with increased antero-posterior thickness), with occasional ectopia of the lenses, severe myopia, and glaucoma. Some patients also have cardiac involvement.[1][2] Autosomal recessive and autosomal dominant forms of Weill-Marchesani syndrome have been identified. These forms cannot be distinguished by clinical findings alone.[3]
References
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Nathalie Dagoneau, Catherine Benoist-Lasselin, Céline Huber, Laurence Faivre, André Mégarbané, Abdulrahman Alswaid, Hélène Dollfus, Yves Alembik, Arnold Munnich, Laurence Legeai-Mallet, and Valérie Cormier-Daire. . Am J Hum Genet. November 2004;:. Available at: http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=15368195. June 9, 2008.
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Charles J Anderson and Nicole J Anderson. NORD Guide to Rare Disorders. In: . Weill-Marchesani Syndrome. Philadelphia, PA:Lippincott Williams & Wilkins; 2003:
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Ekaterini Tsilou and Ian M MacDonald. Weill-Marchesani Syndrome. GeneReviews. November 1, 2007 Available at: http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=weill-ms. Accessed June 9, 2008.
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GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.
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Human Growth Foundation
997 Glen Cove Avenue Suite 5
Glen Head NY 11545
Telephone: 800-451-6434
Fax: 516-671-4055
E-mail: hgf1@hgfound.org
Web site: www.hgfound.org
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Little People of America (LPA)
5289 NE Elam Young Parkway Suite F-100
Hillsboro OR 97124
Telephone: 888-LPA-2001 (888-572-2001); 503-846-1562
Fax: 503-846-1590
E-mail: info@lpaonline.org
Web site: www.lpaonline.org
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International Glaucoma Association
Woodcote House
15 Highpoint Business Village
Henwood
Ashford
Kent TN24 3DH
Phone: (044) 1233 64 81 70
Fax: (044) 1233 64 81 79
E-mail: info@iga.org.uk
Web site: http://www.iga.org.uk
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Glaucoma Research Foundation
251 Post Street, Suite 600
San Francisco, CA 94108
Toll-free: 800-826-6693
Phone: 415-986-3162
Fax: 415-986-3763
E-mail: question@glaucoma.org
Web site: http://www.glaucoma.org
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Children's Glaucoma Foundation
2 Longfellow Place
Suite 201
Boston, MA 02114
Phone: 617-227-3011
Web site: http://www.childrensglaucoma.com
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MUMS National Parent to Parent Network puts parents in touch with other parents who have children with this condition or similar symptoms.
MUMS National Parent to Parent Network
150 Custer Court
Green Bay, Wisconsin 54301-1243
Toll-free: 877-336-5333 (Parents only please)
Telephone: 920-336-5333
Fax: 1-920-339-0995
E-mail: mums@netnet.net
Web site: http://www.netnet.net/mums/
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We recommend that you discuss this information and your concerns with a genetics professional. The following online resources can help you find a genetics professional in your community:
* GeneClinics - A searchable directory of US and international genetics and prenatal diagnosis clinics. To locate genetics clinics in the United States, go to the following link and click on 'Clinic Directory' to find a genetic service close to you.
* ResourceLink - A database of genetics counseling services, searchable by location, name, institution, type of practice, or specialty. Hosted by the National Society of Genetic Counselors.
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