Loeys-Dietz Syndrome (cont.)
Melissa Conrad Stöppler, MD
Melissa Conrad Stöppler, MD
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.
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What are the signs and symptoms of Loeys-Dietz syndrome?
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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.
Is Loeys-Dietz syndrome inherited?
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.
Medically Reviewed by a Doctor on 1/23/2014
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