Loeys-Dietz Syndrome D055947

Related MeSH Hierarchy (6)

Diseases [C] » Musculoskeletal Diseases [C05] » Musculoskeletal Abnormalities » Craniofacial Abnormalities » Loeys-Dietz Syndrome

Diseases [C] » Cardiovascular Diseases [C14] » Vascular Diseases » Aneurysm » Aneurysm, Dissecting » Loeys-Dietz Syndrome

Diseases [C] » Cardiovascular Diseases [C14] » Vascular Diseases » Aneurysm » Aortic Aneurysm » Loeys-Dietz Syndrome

Diseases [C] » Cardiovascular Diseases [C14] » Vascular Diseases » Aortic Diseases » Aortic Aneurysm » Loeys-Dietz Syndrome

Description

An autosomal dominant aneurysm with multisystem abnormalities caused by increased TGF-BETA signaling due to mutations in type I or II of TGF-BETA RECEPTOR. Additional craniofacial features include CLEFT PALATE; CRANIOSYNOSTOSIS; HYPERTELORISM; or bifid uvula. Phenotypes closely resemble MARFAN SYNDROME; Marfanoid craniosynostosis syndrome (Shprintzen-Goldberg syndrome); and EHLERS-DANLOS SYNDROME.   MeSH

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