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Rare Diseases
Epidermolysis Bullosa Fact Sheet 
Information designed to assist newly diagnosed patients with Epidermolysis Bullosa (EB), a group of rare, hereditary skin diseases. The page contains a brief description of EB, resources for patients... Details >
Family Connection: Cystinosis Research Foundation
This site is designed as a place to share stories about the children and young adults with Cystinosis. ... Details >
FAQ: Dystonia Defined
This document presents frequently asked questions about dystonia, a neurological movement disorder characterized by involuntary muscle contractions, which force certain parts of the body into abnormal... Details >
Freeman-Sheldon Syndrome
This online brochure provides basic information for consumers about this rare genetic condition which characteristically includes a small "whistling" mouth, a flat mask-like face, club feet, joint con... Details >
Genetic and Rare Conditions: Support Groups & Information Page
Professionals, educators, or individuals seeking information on genetic conditions or birth defects can use this directory to locate national and international organizations, or contact a genetic coun... Details >
Educational Institution--Follow the Resource URL for More Information
Genetic Testing for Fragile X
This site provides a list of indications for when a Genetic testing for Fragile X should be considered.... Details >
Guillain-Barre Syndrome Information
Also available in: Spanish
A general overview of Guillain-Barre syndrome that describes the disorder and its treatment, prognosis, and research information. A list of organizations that may provide additional information and re... Details >
National Institute of Neurological Disorders and Stroke, National Institutes of Health
Hyperaldosteronism: The Facts You Need To Know
This site includes information about what Hyperaldosteronism is, what causes it, how is diagnosed and treated.... Details >
Index of Organizatons for Rare Diseases
This page provides a list of organizations in NORD's database.... Details >
Joubert Syndrome
A general overview of Joubert syndrome that includes a description of the disorder, and treatment, prognosis and research information. Suggested reading for more in-depth information and a list of ref... Details >
National Institute of Neurological Disorders and Stroke, National Institutes of Health