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Genes are the building blocks of heredity and are passed from parent to child. Genes contain DNA, which has instructions for making proteins. A genetic disorder, also called a genetic disease, occurs when a gene has a problem with its code, causing a health problem. These problems are called mutations or variations. Mutations can cause proteins to not work properly or to be missing entirely.
Genetic disorders can be caused by: Pathogenic mutations: These mutations cause disease. Mutations in a single gene Mutations in multiple genes Chromosomal abnormalities
Genetic disorders can range from mild to very severe. Some examples include: Some cancers, Cystic fibrosis, High cholesterol, Haemophilia, Muscular dystrophy, Birth defects, and Down Syndrome. Genetic disorders can be inherited from one or both parents. Some physical signs of genetic disorders include: Ear abnormalities, Unusually shaped eyes, Different colored eyes, Facial features that are unusual or different from other family members, and Brittle or sparse hair.
Some symptoms of genetic disorders include: Behavioral changes or disturbances Breathing problems Cognitive deficits Developmental delays Eating and digestive issues Limb or facial anomalies Movement disorders Neurological issues Poor growth or short stature Vision or hearing loss
Genetic testing can show if someone is at risk for an illness or is a carrier for an illness. Testing can be done on small samples of blood or saliva, amniotic fluid, the placenta, or an embryo during in vitro fertilization (IVF).
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