Loeys-Dietz syndrome is an inherited genetic syndrome characterized by aortic aneurysms in children, which put them at a greater risk of dying. Physical characteristics of the syndrome include early fusion of the skull bones, widely spaced eyes, and split uvula or cleft palate. Treatment includes surgical repair of the aneurysms. Read more: What Is Loeys-Dietz Syndrome? Article
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Genetics: 11 Surprising Things Your Genes Say About You
Explore what role DNA plays in your health, love life, and more in this WebMD slideshow.
Family Health History: Genetics, DNA Testing and Your Health
WebMD explains why your doctor asks about your relatives' health conditions and how you can get the information if you don’t know.
Related Disease Conditions
The definition of a genetic disease is a disorder or condition caused by abnormalities in a person's genome. Some types of genetic inheritance include single inheritance, including cystic fibrosis, sickle cell anemia, Marfan syndrome, and hemochromatosis. Other types of genetic diseases include multifactorial inheritance. Still other types of genetic diseases include chromosome abnormalities (for example, Turner syndrome, and Klinefelter syndrome), and mitochondrial inheritance (for example, epilepsy and dementia).
Arrhythmias (Heart Rhythm Disorders)
Heart rhythm disorders vary from minor palpitations, premature atrial contractions (PACs), premature ventricular contractions (PVCs), sinus tachycardia, and sinus bradycardia, to abnormal heart rhythms such as tachycardia, ventricular fibrillation, ventricular flutter, atrial fibrillation, atrial flutter, paroxysmal supraventricular tachycardia (PSVT), Wolf-Parkinson-White syndrome, brachycardia, or heart blocks. Treatment is dependent upon the type of heart rhythm disorder.
Abdominal Aortic Aneurysm
Abdominal aortic aneurysm is a ballooning or widening of the main artery (the aorta) as it courses down through the abdomen. Most abdominal aortic aneurysms produce no symptoms. Treatment may include observation or surgical repair.
Ehlers-Danlos syndromes are genetic disorders that include symptoms such as loose joints, tissue weakness, easy bruising, and skin that stretches easily. There are seven types of Ehlers-Danlos syndromes: classical type, hypermobility type, vascular type, kyphoscoliosis type, arthrochalsia type, dermatosparaxis type, and tenascin-X deficient type. Treatment for Ehlers-Danlos syndromes depends on which symptoms and signs are present.
Marfan syndrome is hereditary (genetic) condition affecting connective tissue. A person with Marfan syndrome may exhibit the following symptoms and characteristics: Dislocation of one or both lenses of the eye A protruding or indented breastbone Scoliosis Flat feet Aortic dilatation Dural ectasia (a problem with the sac surrounding the spinal cord) Stretch marks Hernia Collapsed lung Though there is no cure for Marfan syndrome, there are treatments that can minimize and sometimes prevent some complications.
Life Expectancy of Someone With Marfan Syndrome
People who are accurately diagnosed, adapt proper lifestyles and receive appropriate medical and surgical management may live for a normal life span (into their 70s). However, there are no guarantees. Having Marfan syndrome does not mean patients might not acquire other conditions that are common in the aging population.
Birth defects have many causes and currently, are the leading cause of death for infants in the first year of life. Some of the causes of birth defects include genetic or chromosome problems. Exposure of the mother to rubella or German measles during pregnancy, or using drugs or alcohol during pregnancy. The treatment for birth defects depends upon the condition of the effected child.
Congenital Heart Defects
Congenital heart defects are heart problems that are present at birth. Genetics may play a role in some heart defects. Symptoms can range from nonexistent to severe and life-threatening. Fatigue, rapid breathing, and decreased blood circulation are a few possible symptoms of congenital heart defects. Many cases do not require any treatment. Procedures using catheters and surgery may be used to repair severe heart defects.
Your health care provider may refer you to a genetic professional. Universities and medical centers also often have affiliated genetic professionals, or can provide referrals to a genetic professional or genetics clinic. Genetic counseling provides patients and family members the tools to make the right choice in regard to test for a disease or condition.
Cleft Palate and Cleft Lip
Cleft palate and cleft lip are facial and oral defects that occur early in pregnancy. A cleft lip is a split of the two sides of the upper lip, and a cleft palate is a split in the roof of the mouth. Cleft lip the fourth most common birth defect in the U.S. Repair of a cleft palate or cleft lip may require multiple surgeries.
Genetic Testing: Families With Breast Cancer
Breast cancer can be a killer and the decision to get tested to see if a patient is prone to the disease should be discussed with a doctor -- particularly if the woman has a history of breast cancer in her family. Genetic testing can only tell so much about breast cancer risk, however.
Who Should Get Genetic Counselling?
Genetic counseling is the process that helps you in determining hereditary or genetic (running in your family) problems that might affect you or your family. It is done by a trained professional.