A genetic disorder is a disease caused by a different form of a gene called a variation, or an alteration of a gene called a mutation. Many diseases have a genetic aspect. Some, including many cancers, are caused by a mutation in a gene or group of genes in a person's cells. These mutations can occur randomly or because of an environmental exposure such as cigarette smoke.
Other genetic disorders are inherited. A mutated gene is passed down through a family and each generation of children can inherit the gene that causes the disease. Still other genetic disorders are due to problems with the number of packages of genes called chromosomes. In Down syndrome, for example, there is an extra copy of chromosome 21.
If you know that you have a genetic problem in your family, you can have genetic testing to see if your baby could be affected.
National Human Genome Research Institute
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Frequently Asked Questions about Genetic Disorders
(National Human Genome Research Institute) - http://www.genome.gov/19016930
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Genetic and Rare Diseases Information Center(Office of Rare Diseases) - http://rarediseases.info.nih.gov/GARD/Default.aspx?PageID=4
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Genetics Home Reference(National Library of Medicine) - http://ghr.nlm.nih.gov/
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Human Genetic Variation(National Institute of General Medical Sciences) - http://www.nigms.nih.gov/Publications/Factsheet_GeneticVariation.htm
- Your Genes, Your Health(Dolan DNA Learning Center) - Requires Flash Player - http://www.yourgenesyourhealth.org/
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Genetic Mapping(National Human Genome Research Institute) - http://www.genome.gov/10000715
- Progeria Research Foundation Diagnostic Testing Program(Progeria Research Foundation, Inc.) - http://www.progeriaresearch.org/diagnostic_testing.html
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MedlinePlus: Newborn Screening(National Library of Medicine) - http://www.nlm.nih.gov/medlineplus/newbornscreening.html
Also available in Spanish http://www.nlm.nih.gov/medlineplus/spanish/newbornscreening.html
- Physical Therapy and Occupational Therapy in Progeria(Progeria Research Foundation, Inc.) - Links to PDF - http://www.progeriaresearch.org/assets/files/pdf/Physical%20Therapy(07-04).pdf
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Batten Disease(National Institute of Neurological Disorders and Stroke) - Short Summary - http://www.ninds.nih.gov/disorders/batten/batten.htm
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Batten Disease(National Institute of Neurological Disorders and Stroke) - http://www.ninds.nih.gov/disorders/batten/detail_batten.htm
Also available in Spanish http://espanol.ninds.nih.gov/trastornos/enfermedad_de_batten.htm
- Bloom's Syndrome(Center for Jewish Genetic Diseases) - http://www.mssm.edu/jewish_genetics/diseases/bloom.shtml
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Chromosomal Abnormalities(March of Dimes Birth Defects Foundation) - http://www.marchofdimes.com/professionals/14332_1209.asp
Also available in Spanish http://www.nacersano.org/centro/9259_9964.asp
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Late-Appearing Defects(March of Dimes Birth Defects Foundation) - http://www.marchofdimes.com/pnhec/4439_4139.asp
Also available in Spanish http://www.nacersano.org/centro/9259_9703.asp
- Noonan Syndrome(Mayo Foundation for Medical Education and Research) - http://www.mayoclinic.com/print/noonan-syndrome/DS00857/DSECTION=all&METHOD=print
- Progeria 101/FAQ(Progeria Research Foundation, Inc.) - http://www.progeriaresearch.org/progeria_101.html
- Progeria: Hutchinson-Gilford Progeria Syndrome (HGPS)(American Pregnancy Association) - http://www.americanpregnancy.org/birthdefects/progeria.htm
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Specific Genetic Disorders(National Human Genome Research Institute) - http://www.genome.gov/page.cfm?pageID=10001204
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Williams Syndrome(National Institute of Neurological Disorders and Stroke) - http://www.ninds.nih.gov/disorders/williams/williams.htm
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Learning about an Undiagosed Condition in an Adult(National Human Genome Research Institute) - http://www.genome.gov/17515946
- Multifactorial Inheritance(March of Dimes Birth Defects Foundation) - http://www.marchofdimes.com/pnhec/4439_4138.asp
- Your Genes, Your Health(Dolan DNA Learning Center) - Requires Flash Player - http://www.yourgenesyourhealth.org/
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Chromosome Abnormalities(National Human Genome Research Institute) - http://www.genome.gov/11508982
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Common Forms of Inheritance(March of Dimes Birth Defects Foundation) - http://www.marchofdimes.com/pnhec/4439_4136.asp
Also available in Spanish http://www.nacersano.org/centro/9259_9704.asp
- Introduction to Chromosomes(Chromosome Deletion Outreach) - http://www.chromodisorder.org/CDO/General/IntroToChromosomes.aspx
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Financial Assistance Information(National Human Genome Research Institute) - http://www.genome.gov/11008842
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ClinicalTrials.gov: Genetic Diseases, Inborn(National Institutes of Health) - http://clinicaltrials.gov/search/open/condition=%22Genetic+Diseases,+Inborn%22
- Genetics Home Reference: Genetic Conditions(National Library of Medicine) - http://ghr.nlm.nih.gov/BrowseConditions
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All about the Human Genome Project (HGP)(National Human Genome Research Institute) - http://www.genome.gov/10001772
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Progeria(National Institutes of Health) - Links to PDF - http://www.nih.gov/about/researchresultsforthepublic/Progeria.pdf
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Study Finds Biochemical Defect in Juvenile Batten Disease(National Institute of Neurological Disorders and Stroke) - http://www.ninds.nih.gov/news_and_events/news_articles/news_article_Batten_arginine.htm
References and abstracts from MEDLINE/PubMed (National Library of Medicine)
- Article: Genetic and genomic discovery using family studies. - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=pubmed&dopt=AbstractPlus&list_uids=18765388&tool=MedlinePlus
- Article: The QT syndromes: long and short. - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=pubmed&dopt=AbstractPlus&list_uids=18761222&tool=MedlinePlus
- Article: Clinical and laboratory findings of two newborns with Wiedemann-Rautenstrauch syndrome:... - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=pubmed&dopt=AbstractPlus&list_uids=18717246&tool=MedlinePlus
- Genetic Disorders -- see more articles - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=search&db=pubmed&term=congenital+abnormalities/ge[majr]+OR+genetic+diseases,inborn[majr:noexp]+AND+english[la]+AND+humans[mh]+AND+(jsubsetk[text]+OR+review[pt]+OR+guideline[pt]+OR+clinical+trial[pt]+OR+patient+education+handout[pt]+OR+systematic[sb])+NOT+(letter[pt]+OR+editorial[pt])&doptcmdl=summary&cmd_current=Limits&pmfilter_EDatLimit=last+1+Year&tool=MedlinePlus
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Talking Glossary of Genetic Terms(National Human Genome Research Institute) - Requires media player - http://www.genome.gov/glossary.cfm
Also available in Spanish http://www.genome.gov/sglossary.cfm
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Genetic and Rare Diseases Information Center(Office of Rare Diseases) - http://rarediseases.info.nih.gov/GARD/Default.aspx?PageID=4
- Laboratory Directory-GeneReviews(University of Washington) - http://www.genetests.org/servlet/access?id=8888891&key=xW0l31Z2a4hTc&fcn=y&fw=XPF9&filename=/labsearch/searchdztest.html
- US Clinic Directory Search(University of Washington) - http://www.genetests.org/servlet/access?id=8888891&key=yLoqrsrCVms-M&fcn=y&fw=ZDht&filename=/clinicsearch/searchclinic.html
- Chromosome Deletion Outreach - http://www.chromodisorder.org/
- Genetic Alliance - http://www.geneticalliance.org/
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National Human Genome Research Institute - http://www.genome.gov/
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National Institute of Child Health and Human Development - http://www.nichd.nih.gov/
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National Institute of Neurological Disorders and Stroke - http://www.ninds.nih.gov/
Also available in Spanish http://espanol.ninds.nih.gov/
- National Office of Public Health Genomics(Centers for Disease Control and Prevention) - http://www.cdc.gov/genomics/
- Genomics & Health Weekly Update(Centers for Disease Control and Prevention) - http://www.cdc.gov/genomics/update/current.htm
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Genetic Discrimination Nondiscrimination Act of 2008(National Human Genome Research Institute) - http://www.genome.gov/page.cfm?pageID=10002328
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Issues in Genetics and Health(National Human Genome Research Institute) - http://www.genome.gov/10001740
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Learning about an Undiagosed Condition in a Child(National Human Genome Research Institute) - http://www.genome.gov/17515951
- Medical Genetics(Children's Hospital of Philadelphia) - http://www.chop.edu/consumer/your_child/condition_section_index.jsp?id=-8537
- What Is a Gene?(Nemours Foundation) - http://kidshealth.org/kid/talk/qa/what_is_gene.html
- What Is a Pediatric Geneticist?(American Academy of Pediatrics) - Links to PDF - http://www.aap.org/family/WhatisPedGeneticist.pdf
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Basics on Genes and Genetic Disorders(Nemours Foundation) - http://kidshealth.org/teen/your_body/health_basics/genes_genetic_disorders.html
Also available in Spanish http://kidshealth.org/teen/en_espanol/cuerpo/genes_genetic_disorders_esp.html
- Genetic Disorders in Pregnancy(American College of Obstetricians and Gynecologists) - http://www.medem.com/medlb/article_detaillb.cfm?article_ID=ZZZ2JZPN97C&sub_cat=2005
- Birth Defects - http://www.nlm.nih.gov/medlineplus/birthdefects.html
- Celiac Disease - http://www.nlm.nih.gov/medlineplus/celiacdisease.html
- Cleft Lip and Palate - http://www.nlm.nih.gov/medlineplus/cleftlipandpalate.html
- Cystic Fibrosis - http://www.nlm.nih.gov/medlineplus/cysticfibrosis.html
- Down Syndrome - http://www.nlm.nih.gov/medlineplus/downsyndrome.html
- Dwarfism - http://www.nlm.nih.gov/medlineplus/dwarfism.html
- Fragile X Syndrome - http://www.nlm.nih.gov/medlineplus/fragilexsyndrome.html
- Genetic Brain Disorders - http://www.nlm.nih.gov/medlineplus/geneticbraindisorders.html
- Genetic Counseling - http://www.nlm.nih.gov/medlineplus/geneticcounseling.html
- Genetic Testing - http://www.nlm.nih.gov/medlineplus/genetictesting.html
- Head and Brain Malformations - http://www.nlm.nih.gov/medlineplus/headandbrainmalformations.html
- Hemochromatosis - http://www.nlm.nih.gov/medlineplus/hemochromatosis.html
- Leukodystrophies - http://www.nlm.nih.gov/medlineplus/leukodystrophies.html
- Osteogenesis Imperfecta - http://www.nlm.nih.gov/medlineplus/osteogenesisimperfecta.html
- Prader-Willi Syndrome - http://www.nlm.nih.gov/medlineplus/praderwillisyndrome.html
- Sickle Cell Anemia - http://www.nlm.nih.gov/medlineplus/sicklecellanemia.html
- Genetics/Birth Defects - http://www.nlm.nih.gov/medlineplus/geneticsbirthdefects.html
The primary NIH organization for research on Genetic Disorders is the National Institute of Child Health and Human Development - http://www.nichd.nih.gov/