National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Rieger Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Rieger syndrome is a rare genetic disorder characterized by absent or under-developed (hypodontia or partial adontia) teeth, mild craniofacial abnormalities, and various abnormalities of the eye, especially glaucoma. If unaccompanied by other signs and symptoms, the eye abnormalities are referred to as Rieger eye anomalies.
Specialists recognize two genetic forms of Rieger syndrome. Type I occurs as a result of mutations on chromosome 4 and Type II results from mutations on chromosome 13.
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National Association for Parents of Children with Visual Impairments (NAPVI)
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Genetic and Rare Diseases (GARD) Information Center
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This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email email@example.com
Last Updated: 4/8/2008
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