Genetic disorders are caused by changes in genes or chromosomes, and can be inherited from parents or acquired through mutations. They can affect many parts of the body and cause a variety of symptoms. The seven most common genetic disorders are Down syndrome, hyperhomocysteinemia, albinism, Apert syndrome, congenital adrenal hyperplasia, hereditary heart disease, and asthma. Down syndrome is a chromosomal disorder caused by the presence of an extra copy of chromosome 21 in all or some of the cells.
It is the most commonly diagnosed chromosomal disorder, affecting 1 in 691 babies born in the United States. Symptoms include developmental delays, osteoporosis, blood clots, heart attacks, heart disease, strokes, and visual abnormalities. Hyperhomocysteinemia is a sign that the body is not producing enough of the amino acid homocysteine. It can be inherited (genetic) and is a rare and serious condition that can lead to early death.
Albinism is a group of genetic conditions that cause a lack of color or very little color in the hair, skin and eyes. People with albinism need to take extra precautions to protect themselves from the sun. Apert syndrome is a rare condition that causes an abnormal shape of the skull and the fusion of the fingers and toes. Surgery and other treatments can help with development.
Congenital adrenal hyperplasia affects hormones and can cause health problems. However, people with this condition can still enjoy a normal lifestyle. Heart disease is one of the leading causes of death in the United States. The most common types are coronary artery disease (CAD) and hypertension (high blood pressure).
While having parents who have heart disease may increase your risk of getting it, you can still reduce your risk or manage your symptoms properly by making lifestyle changes such as eating healthy foods, exercising regularly, maintaining a healthy weight, limiting alcohol consumption, avoiding smoking, and visiting the doctor for regular health checks. Asthma is a lung disease caused by triggers such as allergies, air pollutants, smoke, mold, dust mites, animals and exercise. People who have asthma may experience an episode of chest tightness, coughing, breathing problems and wheezing once it's triggered. Limiting exposure to triggers is the best way to avoid asthma symptoms and having medication handy if you have symptoms is also important. Diabetes affects one out of every 13 people in the United States.
It can be caused by genetic, environmental and lifestyle factors. Whether type 1 or type 2 diabetes it is a chronic disease that must be detected and treated in time as it can cause serious complications such as blindness, amputation, heart disease and kidney failure. Single-gene disorders are caused by a specific gene that causes a disease. There are more than 6,000 single-gene disorders with varying symptoms. Some single-gene disorders can be identified as soon as pregnancy or childbirth occurs while others may not be diagnosed until adulthood. Cancer is caused by uncontrolled growth and spread of abnormal cells in specific parts of the body.
Some of the most common types are lung cancer (the leading cause of cancer deaths in both men and women in the United States), breast cancer and prostate cancer. To reduce your risk you should follow a healthy diet, exercise regularly, avoid smoking, limit alcohol consumption and undergo routine health checks. Eating problems at an early age are common in Smith-Magenis Syndrome as well as hyperactivity and obsessive attachment to objects or repetitive movements (e.g., hand flapping). Fabry Disease is another rare genetic disorder that can affect many parts of the body and cause many different types of symptoms. If there is a family history of genetic disorders DNA testing may be an important part of starting a family. Aggressive behavior is common in Angelman Syndrome and it has been suggested that these behaviors may occur to initiate or prolong social interaction with adults. In addition to lifestyle choices genes and environmental factors also contribute to brain development which has been found to be guided by genetic factors and experiences.
