Genetic Disorders

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Genetic Disorders & Birth Defects
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Genetic Disorders
More than 5,000 different genetic disorders have been identified in humans.
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Genetic disorders are caused by abnormalities (mutations) in your DNA. These abnormalities are formed by the erroneous addition, deletion or substitution of chemicals that make up your DNA.
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See all Pictures & Images Genetic disorders
Almost all diseases have a genetic component, but the importance of that component varies.
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Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment. Ed. Aubrey Milunsky. Baltimore: Johns Hopkins University Press, 1992.
Kolker, Aliza. Prenatal Testing: A Sociological Perspective. Westport, CT: Bergin & Garvey, 1994.
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A group of genetic disorders in which there is an abnormal increase in the size of the body or a body part that is often noted at birth.
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Detect inherited genetic disorders of your baby during pregnancy (such as Tay-Sachs disease, hemophilia, sickle cell disease, cystic fibrosis, or thalassemia), especially if either you or the father has a family history of an inherited disorder.
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Some genetic disorders (i.e., Wiskott-Aldrich and Beckwith-Wiedemann syndrome) are known to alter the immune system. The immune system is a complex system that functions to protect our bodies from infection and disease.
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Severe vitamin B6 deficiencies (usually due to genetic disorders) can result in overproduction of oxalic acid.
Deficiencies in Oxalobacter formigene. Deficiency in an intestinal bacterium called Oxalobacter formigenes is now a suspect in some cases.
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Genetic counselors work as members of a health care team, providing information and support to families who have members with birth defects or genetic disorders and to families and individuals who may be at risk for a variety of inherited conditions.
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The health problems produced by these genetic disorders depend upon whether the person has one or two abnormal genes. One abnormal gene causes a condition called sickle cell trait.
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Damage to the pituitary gland can be caused by different diseases as well as by head injuries, neurosurgery, or genetic disorders.
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Genetic haemochromatosis is now recognised as being one of the most common genetic disorders. The process of inheritance is autosomal recessive. This means that to develop the disease a person must inherit an abnormal gene from both parents.
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Huntington disease is one of the most common genetic disorders. About 30,000 people in the United States have the disease. About 250,000 people are at risk for it because one of their parents has the disease.
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HEMOGLOBINOPATHY - A group of rare genetic disorders (e.g. hemoglobin c disease, sickle cell anemia) that involve the abnormal production of the hemoglobin molecule.
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Most cases of porphyria are caused by genetic disorders. Some cases are caused by toxic substances, such as ingestion or exposure to lead. Menstruation may increase symptoms in women.
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Porphyria: Symptoms & Signs ...
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Genetics
Understanding genetic factors and genetic disorders is important in learning more about preventing birth defects and other conditions in children....more ...
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Vascular disease (atherosclerosis)
Rheumatic diseases, such as lupus
Genetic disorders, such as polycystic kidney disease
Exposure to toxic drugs, including certain antibiotics, chemotherapy, contrast dyes and pain relievers ...
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Amniocentesis: Withdrawing some amniotic fluid from the amniotic sac by inserting a needle through the abdomen. The fluid is studied for a number of possible genetic disorders among babies, ...
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There are distinct genetic disorders with characteristic clinical presentations referred to as multiple endocrine neoplasia (MEN) 1, MEN 2a, and MEN 2b.
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