Loeys-Dietz syndrome
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Loeys-Dietz syndrome (LDS) is an autosomal dominant genetic syndrome which has many features similar to Marfan syndrome.
The syndrome is thought to have classical triad of 1:
- arterial tortuosity and aneurysms
- hypertelorism
- bifid uvula or cleft palate
Pathology
It is caused by mutations in the genes encoding transforming growth factor beta receptor 1 (TGFBR1) or 2 (TGFBR2).
Sub typesSubtypes
LDS can be subdivided in LDS type I (LDSI) and type II (LDSII) on the basis of the presence or the absence of craniofacial involvement.
History and etymology
It is named after Harry C. Dietz, an American (US) physician and Bart L. Loeys 1 a Belgian physician.
-<p><strong>Loeys-Dietz syndrome (LDS)</strong> is an autosomal dominant genetic syndrome which has many features similar to <a href="/articles/marfan-syndrome">Marfan syndrome</a>.</p><p>The syndrome is thought to have classical triad of <sup>1</sup></p><ul>- +<p><strong>Loeys-Dietz syndrome (LDS)</strong> is an autosomal dominant genetic syndrome which has many features similar to <a href="/articles/marfan-syndrome">Marfan syndrome</a>.</p><p>The syndrome is thought to have classical triad of <sup>1</sup>:</p><ul>
-</ul><h4>Pathology</h4><p>It is caused by mutations in the genes encoding transforming growth factor beta receptor 1 (TGFBR1) or 2 (TGFBR2).</p><h5>Sub types</h5><p>LDS can be subdivided in LDS type I (LDSI) and type II (LDSII) on the basis of the presence or the absence of craniofacial involvement</p><h4>History and etymology</h4><p>It is named after <strong>Harry C. Dietz</strong>, an American (US) physician and <strong>Bart L. Loeys</strong><sup> 1</sup> a Belgian physician.</p>- +</ul><h4>Pathology</h4><p>It is caused by mutations in the genes encoding transforming growth factor beta receptor 1 (TGFBR1) or 2 (TGFBR2).</p><h5>Subtypes</h5><p>LDS can be subdivided in LDS type I (LDSI) and type II (LDSII) on the basis of the presence or the absence of craniofacial involvement.</p><h4>History and etymology</h4><p>It is named after <strong>Harry C. Dietz</strong>, an American (US) physician and <strong>Bart L. Loeys</strong><sup> 1</sup> a Belgian physician.</p>