Loeys-Dietz Syndrome - Signs and Symptoms

Was your child diagnosed with Loeys-Dietz syndrome? Please describe signs, symptoms, or characteristics.

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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.

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