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About Cystinosis 
This document provides information about Cystinosis, a rare disease that primarily affects children and a genetic metabolic disease that causes an amino acid, cystine, to accumulate in various organs ... Details >
About Primary Hyperoxaluria
Online information for consumers about primary hyperoxaluria, a rare metabolic disease caused by the liver making too much oxalic acid which is excreted in the urine.... Details >
About Schwannomatosis
This site provides information about the disease and Features of Schwannomatosis.... Details >
Acid Maltase Deficiency Association Home Page
The Acid Maltase Deficiency Association, A M D A, was formed to assist in funding research and to promote public awareness of Acid Maltase Deficiency, also known as Pompe's Disease.... Details >
Ataxia Chapters, Support Groups, and Ambassadors
This site provides a database to a comprehensive listing of groups and individuals who meet to discuss Ataxia related issues. ... Details >
Behcet's Disease Information
A general overview of Behcet's disease that includes a description and information about treatment, prognosis and research. A list of organizations where users may obtain additional information and se... Details >
National Institute of Neurological Disorders and Stroke, National Institutes of Health
Cavernous Malformation Information Page
This page is a backgrounder on cavernous malformation, a rare disorder of the capillaries and smallest veins in one part of the brain. The disorder occurs when a blood-filled mass resembling a tumor, ... Details >
National Institute of Neurological Disorders and Stroke, National Institutes of Health
Characteristics of Fragile X Syndrome
This site provides a link to major characteristics of fragile X syndrome, including physical and behavioral features.... Details >
Congenital Adrenal Hyperplasia (CAH): The Facts You Need To Know
This site contains information about the diagnosis, treatment modalities, quick facts and more about Congenital Adrenal Hyperplacia (CAH).... Details >
Creutzfeldt-Jakob Disease (CJD)
Also available in: Spanish
A general overview of Creutzfeldt-Jakob Disease (CJD) that includes a description and information about treatment, prognosis and research. A list of organizations where users may obtain additional inf... Details >
National Institute of Neurological Disorders and Stroke, National Institutes of Health
Cystinosis Resources - Cystinosis Research Network
This page contains links to other organizations of interest to Cystinosis patients, families, and friends. The links are organized into categories, including education, support, and medical and health... Details >
Database for Rare Pediatric Disease
Madisons Foundation has compiled a database of rare pediatric diseases. Database entries describe symptoms, available treatments and additional sources of information and support.... Details >
Description of Klippel-Trenaunay Syndrome
An overview of the Klippel-Trenaunay (K-T) syndrome, a rare congenital malformation that may include a port-wine stain or "birthmark" (cutaneous capillary malformations), soft tissue and bony hypertro... Details >
Diagnosis of Ataxia
Being diagnosed with Ataxia can be overwhelming. This site provides a few frequently asked questions that can help you to understand ataxia better.... Details >
Disease Information: Histiocytosis
This site provides basic information about histiocytosis, a very rare disorder which affects an estimated 1 in 200,000 children born each year in the United States. This illness is so rare, there is ... Details >
Dystonia: Find a Healthcare Professional
The Dystonia Foundation and the National Spasmodic Dysphonia Association maintain a directory of healthcare professionals who specialize in treatment of the various forms of dystonia; this list is con... Details >
Ectodermal Dysplasia: Family Services and Programs
Browse this page for information about national and regional family support conferences and workshops, participants directory, and referral services for EDs.... Details >
Ehlers Danlos Syndrome Facts
This page provides general consumer information about EDS, its symptoms, treatment, types of and manifestations, and synonyms.... Details >
Ehlers-Danlos Information Page
Users can access a variety of topics related to Ehlers-Danlos syndrome from this web site. Includes information about the different types and manifestation of the disorder as well as coping skills.... Details >
Ehlers-Danlos Syndrome (EDS): An Introduction
This is the home page of the EDS support group for patients and families. The page describes the signs and symptoms of EDS, a heterogeneous group of heritable disorders of connective tissue, characte... Details >
Nonprofit/Professional Entity--Follow the Resource URL for More Information
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
Joubert Syndrome Information Center
Online information center provides resources, articles and reports related to joubert syndrome. Feeding & oral motor, hearing, legal help, medical journal articles and therapy are addressed.... Details >
Joubert Syndrome Resources
Links to federal agencies, support groups and other nonprofit websites that provide information and resources for joubert syndrome.... Details >
Langerhans Cell Histiocytosis (LCH) in Children
Visit this page for online information about this rare disorder, previously known as Histiocytosis-X, that primarily affects children.... Details >
Laurence Moon Bardet Biedl Syndrome Information and Referral Services
Links to support services, organizations, genetic societies, treatment clinics and other resources related to Laurence Moon Bardet Biedl Syndrome.... Details >
Educational Institution--Follow the Resource URL for More Information
Laurence Moon Syndrome
Basic consumer information about Laurence Moon Syndrome including a list of synonyms and resources where you can get additional information.... Details >
Lowe Syndrome
Basic consumer information about Lowe's Syndrome. This page also contains a list of synonyms and resources where users can get additional information.... Details >
Medical and other Related Links - National Graves' Disease Foundation
The selected resources included in this list may help individuals understand more and find other links to organizations that provide support, materials and practical information related to this topic.... Details >
Medical Resource Directory - Neurofibromatosis, Inc.
This site has a listing of medical facilities that have personnel on staff with experience in dealing with neurofibromatosis. Some facilities have established NF Clinics; others have resources availa... Details >
Mesothelioma: Questions and Answers
A fact sheet about the risk factors, symptoms, diagnosis, and treatment of mesothelioma.... Details >
National Institute of Neurological Disorders and Stroke (NINDS) Publications
Also available in: Spanish
List of information and publications related to neurological diseases available from the National Institute of Neurological Disorders and Stroke, National Institutes of Health (NINDS) Office of Scient... Details >
National Institute of Neurological Disorders and Stroke, National Institutes of Health
Newsletters - Dysautonomia Information Network
Dysautonomia News is a quarterly publication of the Dysautonomia Information Network, a nonprofit organization dedicated to providing dysautonomia patients with the latest findings in research and tre... Details >
NHGRI Genetic and Rare Diseases Information Center Page
This site provides information about The Genetic and Rare Diseases Information Center (GARD) which was established by the National Human Genome Research Institute (NHGRI) and the Office of Rare Diseas... Details >
ORD Genetic and Rare Diseases Information Center Page
Also available in: Spanish
This page welcomes to the Genetic and Rare Diseases Information Center. The Center employs information specialists to answer in English or Spanish questions from the general public about genetic and r... Details >
Organizational Database: National Organization for Rare Disorders
Search from more than 2,000 patient organizations and other sources of help for people with rare diseases. ... Details >
Parent Resource Groups and Contacts: National Fragile X Foundation
This site provides a link to emotional and educational support and information about local programs and services for individuals with FXS.... Details >
Patient Support: Dystonia
This page offers information about the type of programs that are offered to provide an opportunity for people not only to cope with dystonia, but also to reach beyond the disorder until a cure is foun... Details >
Planning for Post Operative Care for children with Osteogenesis Imperfecta (OI)
This is a fact sheet designed to offer suggestions to help parents prepare for planned or emergency operations for children with osteogenesis imperfecta. ... Details >
Rare Disease Database
This searchable database has reports on more than 1,500 rare diseases.... Details >
Rare Diseases Clinical Research Database
The Rare Diseases Clinical Research Database was developed by the Office of Rare Diseases at the National Institutes of Health. This database provides you information about ongoing or planned research... Details >
Rare Diseases Information
This page links to information about rare diseases, including definitions, causes, treatments, and publications.... Details >
Rare Diseases Terms
Browse this site for a definition of terms related to genetic and rare disorders. These terms and their definitions have been developed from glossaries prepared by U.S. Congressional Office of Technol... Details >
Shwachman-Diamond Syndrome Foundation Home Page
This is the Shwachman-Diamond Syndrome Foundation home page, formerly known as: Shwachman-Diamond Syndrome International.... Details >
Shwachman-Diamond Syndrome: Disease Information
Shwachman-Diamond Syndrome is a rare disease which mainly involves the pancreas, bone marrow and skeleton, but other organs may also be affected. ... Details >
Tools - for Life with Adrenal Disease
This site provides basic information about Adrenal Hormones, Hydration, FDA MedWatch Program, Emergency Contact & Identification, and more topics related to Adrenal Disease.... Details >
Treatment of Amyloidosis at Mayo Clinic
This site provides answers to patients and their families about amyloidosis -- a rare, bone marrow disease in which the heart, kidneys, nervous system and gastro-intestinal tract are most often affect... Details >
Educational Institution--Follow the Resource URL for More Information
What is Dysautonomia?
This site provides important information about the disease and its symptoms, including additional links to know more.... Details >
What is Fragile X?
This site answers this and other related questions about Fragile X. ... Details >
What is Hereditary Hemorrhagic Telangiectasia (HHT)?
Hereditary Hemorrhagic Telangiectasia (HHT) is a genetic disorder of the blood vessels which affects about one in 5,000 males and females from all racial and ethnic groups. HHT is sometimes referred t... Details >
Hereditary Hemorrhagic Telangiectasia Foundation International, Incorporated
What is Neurofibromatosis?
Neurofibromatosis (NF) is a genetic disorder of the nervous system which causes tumors to form on the nerves anywhere in the body at any time. Check out this page for more information about this diso... Details >