Health A-Z
Find Services & Information
Genetic Diseases
Diseases & Conditions Results: 1-54 of 54 Web Pages
| Show in Pages
About Colon Cancer: Genetics 
This document describes two hereditary conditions: Familial Adenomatous Polyposis (FAP) and Hereditary Non-Polyposis Colorectal Cancer (HNPCC). The importance of genetic testing and counseling is emph... Details >
About Marfan Syndrome
The Marfan syndrome is a heritable condition that affects the connective tissue. The primary purpose of connective tissue is to hold the body together and provide a framework for growth and developmen... Details >
Achromatopsia Network
This is the home page to Achromatopsia Network. The purpose of this Web site is to provide information about achromatopsia and about the publications that are available pertaining to this rare vision... Details >
Basic Facts about Von Hippel-Lindau (VHL)
This page provides basic facts about Von Hippel-Lindau (VHL), a genetic condition involving the abnormal growth of blood vessels in some parts of the body which are particularly rich in blood vessels.... Details >
Chapters and Groups: United Mitochondrial Disease Foundation
In this page you can find chapters and groups by area in the United State.... Details >
Characteristics of Fragile X Syndrome
This site provides a link to major characteristics of fragile X syndrome, including physical and behavioral features.... Details >
Clinical Features of Shwachman-Diamond Syndrome
This document presents the various clinical characteristics of Shwachman-Diamond Syndrome sorted into two categories: the primary features (those that are likely a direct result of the genetic fault t... Details >
Clinics - National Down Syndrome Congress
This page provides a link to each state medical clinic that provides assistance for parents with children affected by Down Syndrome.... 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 >
Family Connection: Cystinosis Research Foundation
This site is designed as a place to share stories about the children and young adults with Cystinosis. ... Details >
Find a Local Chapter: The Children's Tumor Foundation
This site helps you find local chapters and affiliated offices throughout the United States.... Details >
Gaucher Disease
Gaucher Disease is the most common lipid-storage disorder, and is the most common genetic disease affecting Jewish people of Eastern European ancestry. Learn more about this disease by following the ... Details >
Gaucher Disease Patient Support Programs
There is an e-mail discussion list dealing with several genetic diseases, of which Gaucher Disease is the most common. You can also find information on financial assistance programs.... 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 >
Genetics and Genomics for Patients and the Public
This page links to information about genetic disorders, background on genetic and genomic science, the new science of pharmacogenomics, tools to create your own family health history and a list of onl... Details >
National Human Genome Research Institute, National Institutes of Health
Genetics and Neuromuscular Diseases
Also available in: Spanish
This brochure describes just what a genetic disorder is, and explains how genetic testing and counseling can help people understand how disorders that may affect themselves or their children are inher... Details >
Genetics Conditions
This site links to resources on genetic conditions, genetics education, and information for genetics professionals.... Details >
Hemochromatosis Fact Sheet: Health Information on Excess Iron and Iron Overload
Hemochromatosis is completely preventable. When diagnosis is in doubt, the patient should begin a trial of weekly phlebotomies at the blood bank. Four to six weeks will usually provide the answer. ... Details >
Hyperaldosteronism: The Facts You Need To Know
This site includes information about what Hyperaldosteronism is, what causes it, how is diagnosed and treated.... Details >
Jewish Genetic Diseases
This section provides an informative, up-to-date "fact sheet" on each of the most commonly described Ashkenazi Jewish genetic diseases. The specific nature of the genetic defect, major symptoms and di... Details >
Maple Syrup Urine Disease
Maple Syrup Urine Disease (MSUD) is an inherited metabolic disorder, that, if untreated, causes mental retardation, physical disabilities and death.... 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 >
Multiple endocrine neoplasia type 1
Multiple endocrine neoplasia (MEN) type 1 is part of a group of rare diseases caused by genetic defects that lead to hyperplasia (abnormal multiplication or increase in the number of normal cells in n... Details >
National Volunteer Network – National Marfan Foundation
The National Marfan Foundation offers contact information for state chapters, network groups, support groups, and telephone support contacts.... Details >
Neurofibromatosis Information Page
Also available in: Spanish
A general overview of the neurofibromatoses that includes a description of the disorder, treatment, prognosis and research information. A list of referrals where users may obtain additional resources... Details >
National Institute of Neurological Disorders and Stroke, National Institutes of Health
New Parent Information - National Down Syndrome Congress
This page contains a variety of information for parents and caregivers, this parent package presented here include resources, listing of medical clinics, facts about Down Syndrome and more.... Details >
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 >
Newsletters and Brochures: United Mitochondrial Disease Foundation
Newsletters and Brochures are the materials available in this page. UMDF Brochure can be view online or download and print for friends & family members. Includes basic information and donation form. ... 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 >
Noonan Syndrome Links - Noonan Syndrome Support Group, Inc.
This page provides a list of links, some of them discuss features that are associated with Noonan Syndrome. ... Details >
Noonan Syndrome: Possible Anomalies
This page lists anomalies that are often noted in persons with Noonan Syndrome. This does not mean that all anomalies are seen in all persons with the disorder. Some people with Noonan Syndrome may ha... 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 Pamphlets: Neurofibromatosis
This site provides a list of Informational pamphlets about Neurofibromatosis, these pamphlets can be downloaded on pdf.... 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 >
POTS Place: A Guide to Postural Orthostatic Tachycardia Syndrome
Standing up is something most of us take for granted; we've been doing it since childhood. Our bodies automatically adjust to the pull of gravity by increasing vascular tone, heart rate and cardiac ou... Details >
Progeria Publications and Abstracts
This document lists over 100 publications and abstracts related to progeria.... Details >
Public Health Perspective Series
Each Public Health Perspective focuses on a single topic and contains information and commentary on discoveries of genetic variants, related disease outcomes, and the complex social, legal, and ethica... Details >
National Office of Public Health Genomics- Centers for Disease Control and Prevention
Questions and Answers by People Affected by Noonan syndrome - Noonan Syndrome Support Group, Inc.
This page presents some typical Questions and Answers asked by people affected by Noonan syndrome.... 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 >
Specific Genetic Disorders
In this page you will find a list of selected genetic, orphan and rare diseases.... Details >
National Human Genome Research Institute, National Institutes of Health
Support Groups - Dysautonomia Information Network
This page provides a list of support groups for dysautonomia patients. ... Details >
The National MSP ( mucopolysaccharide ) Society Inc.
MPS and Mucolipidoses (ML) are rare genetically determined disorders caused by the body's inability to produce certain enzymes. This results in an abnormal deposit of complex sugars in tissues and cel... 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 >
Turner Syndrome: General Information
Turner's Syndrome occurs in 1 in 2,500 live female births. Patients with Turner's Syndrome may have abnormal body proportions characterized by markedly shortened lower extremities. Find out more infor... Details >
What is a Genetic Condition?
A genetic disease or disorder is the result of changes, or mutations, in an individual’s DNA. A mutation is a change in the letters (DNA sequence) that make up a gene.... Details >
What Is Alpha-1 Antitrypsin Deficiency
Alpha-1-antitrypsin deficiency is a common hereditary disorder characterized by a reduction of serum levels of Alpha-1, emphysema, and occasionally liver disease.... Details >
What Is Ectodermal Dysplasia?
The ectodermal dysplasia (ED) syndromes are a group of about 150 heritable disorders that affect the ectoderm, the outer layer of tissue in a developing baby. ED syndromes affect both males and female... 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 Mitochondrial Disease?
Basis of the Disease: Mitochondrial diseases result from failures of the mitochondria, specialized compartments present in every cell of the body except red blood cells. Mitochondria are responsible f... Details >
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 >
What is Xeroderma Pigmentosum?
This page provides a list of symptoms, diagnosis, treatment and prognosis of the disease.... Details >