Melissa Conrad Stöppler, MD, is a U.S. board-certified Anatomic Pathologist with subspecialty training in the fields of Experimental and Molecular Pathology. Dr. Stöppler's educational background includes a BA with Highest Distinction from the University of Virginia and an MD from the University of North Carolina. She completed residency training in Anatomic Pathology at Georgetown University followed by subspecialty fellowship training in molecular diagnostics and experimental pathology.
Jay W. Marks, MD, is a board-certified internist and gastroenterologist. He graduated from Yale University School of Medicine and trained in internal medicine and gastroenterology at UCLA/Cedars-Sinai Medical Center in Los Angeles.
Loeys-Dietz syndrome is inherited, meaning that it is a genetic syndrome that
tends to run in families. The mutated abnormal gene that causes Loeys-Dietz
syndrome is dominant, and only one
parent needs pass the gene to a child in order for the syndrome to develop.
(This is in contrast to recessive syndromes in
which each parent must pass the gene to a child in order for the syndrome to
develop.) A report published in the New England Journal of Medicine in August,
2006, reported that 52 affected families (with a total of 90 affected
individuals) had been identified.
What causes Loeys-Dietz syndrome?
The cause of Loeys-Dietz syndrome has been determined recently. TGF-beta is a signaling molecule produced in the body that influences the growth, movement, and activity of cells as well as the death of cells by changing the way many genes within the cells are expressed. TGF-beta brings about the changes within cells by binding to receptors on the surfaces of the cells. . Loeys-Dietz syndrome is known to be a result of mutations in the TGF-beta-receptor I (TGFBR1) or II (TGFBR2) genes. The genetic mutations in Loeys-Dietz causes a change in the receptor that prevents TGF-beta from working on the cells. A test is available that can detect the genetic mutation associated with the syndrome; however, the test is not available in most laboratories.
How is Loeys-Dietz syndrome diagnosed?
The diagnosis of aortic aneurysms, including those seen in the Loeys-Dietz
syndrome, usually is made by injecting a dye that is visible by X-ray,
computerized tomography (CT), or magnetic resonance imaging (MRI) into the blood
vessels. X-rays or scans by CT or MRI then are done that show the arteries and
aneurysms (because the aneurysms are filled with dye-containing blood). Although
aortic aneurysms are the hallmark of Loeys-Dietz Syndrome and the characteristic
facial features may suggest the diagnosis, the definitive diagnosis of
Loeys-Dietz Syndrome can only be established by the genetic test (described
above).
Abdominal aortic aneurysm is a ballooning or widening of the main artery (the aorta) as it courses down through the abdomen. The most common cause of aortic aneurysms is
"hardening of the arteries" called arteriosclerosis.
Marfan syndrome is hereditary 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; stretch marks; hernia; and lung collapse. Though there is no cure for Marfan syndrome, there are treatments that can minimize and sometimes prevent some complications.
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 are present.
Genetic disease is a disorder or condition caused by abnormalities in a person's genome. Types of genetic inheritance include single inheritance (for example, cystic fibrosis, sickle cell anemia, Marfan syndrome, and hemochromatosis), multifactoral inheritance, chromosome abnormalities (for example, Turner syndrome, and Klinefelter syndrome), and mitochondrial inheritance (for example, epilepsy and dementia).
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.
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.
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.
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