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.
The only treatment for Loeys-Dietz syndrome to prolong life expectancy is
surgical repair of the aortic aneurysm. Surgical repair of the aneurysms is
generally successful. Since the aneurysms tend to rupture early, early and
accurate diagnosis is critical to ensure that affected individuals receive
prompt surgical treatment. The genetic test can be of value in identifying which
individuals with aortic aneurysms have Loeys-Dietz syndrome, and therefore,
should have immediate surgery. In contrast to Loeys-Dietz syndrome, in other
inherited syndromes associated with aortic aneurysms, surgery carries a poorer
prognosis, and the aneurysms can be managed with medications for a longer period
of time before surgery becomes necessary. Studies are ongoing to determine
whether drug treatment of the Loeys-Dietz syndrome also may be of value.
Loeys-Dietz syndrome is a recently-described connective tissue disorder with features similar to those of Marfan syndrome, and the vascular type of Ehlers-Danlos syndrome. Loeys-Dietz syndrome is primarily characterized by aortic aneurysms (weakened outpouchings of the aorta, the main artery in the body) in children. In Loeys-Dietz syndrome, the aortic aneurysms are prone to rupture at a smaller size than other aneurysms, putting children with Loeys-Dietz at great risk for dying if the aneurysm is not identified and treated early.
The syndrome is named for pediatric geneticist Harry Dietz, director of the
William S. Smilow Center for
Marfan Syndrome Research at Johns Hopkins
University and his colleague, Bart
Loeys, who characterized the genetic and
physical markers of the syndrome together with Dr. Dietz.
What are the signs and symptoms of Loeys-Dietz syndrome?
Aortic aneurysms and abnormal organization of blood vessels (widespread tortuosity of the arteries in locations other than the aorta) are the hallmarks of Loeys-Dietz syndrome, but many affected children have characteristic physical and facial features that may be the first abnormality to be recognized. Recently, LDS has been subdivided into two types, LDS type I (LDSI) and type II (LDSII), signaling the presence or the absence of cranio-facial involvement, respectively.
The craniofacial characteristics of Loeys-Dietz syndrome
include early fusion of the skull bones
(known as craniosynostosis), widely spaced eyes
(hypertelorism), and cleft palate or split
uvula. In some
individuals with Loeys-Dietz syndrome, other physical abnormalities have been
noted, including defects at birth in the heart and brain, osteoporosis (weak
bones), skin changes (such as translucent skin and/or easy bruising), and defects of the spine
or chest. It is important to
note that the severity of the visible physical characteristics varies widely among
affected individuals, but the danger of rupture of aneurysms remains the same no
matter how severe or mild the physical characteristics are.
In many cases pediatricians may be able to recognize the characteristic
facial features of Loeys-Dietz syndrome, and on this basis suggest further
evaluation for the presence of aortic aneurysms and vascular irregularities.
Other people with the syndrome are recognized when they seek medical assistance
for other reasons, such as heart murmurs or a family history of Marfan syndrome
or another condition that may cause
aortic aneurysms.
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.
Cleft lip and cleft palate are
facial and oral malformations that occur very early in pregnancy, while
the baby is developing inside its mother. Clefting results when there is
not enough tissue in the mouth or lip area, and the tissue that is
available does not join together properly.
A cleft lip is a physical split or separation of the two sides of the
upper lip and appears as a narrow opening or gap in the skin of the
upper lip. This separation often extends beyond the base of the nose and
includes the bones of the upper jaw and/or upper gum.
A cleft palate is a split or opening in the roof of the mouth. A
cleft palate can involve the hard palate (the bony front portion of the
roof of the mouth), and/or the soft palate (the soft back portion of the
roof of the mouth).
Cleft lip and cleft palate can occur on one or both sides of the
mouth. Because the lip an...
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