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 havefeatures a classical triad of 1:
- arterial tortuosity and aneurysms
- hypertelorism
- bifid uvula or cleft palate
Pathology
It is is caused by mutations in the genes encoding transforming growth factor beta receptor 1 (TGFBR1) or 2 (TGFBR2).
Subtypes
LDS can be subdivided 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 afterHarry C. Dietz, an American American (US) physician andBart 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 features a 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>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>- +</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>
Systems changed:
- Vascular
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