Related MeSH Hierarchy (5)
Diseases [C] » Musculoskeletal Diseases [C05] » Musculoskeletal Abnormalities » Craniofacial Abnormalities » 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
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Congenital Abnormalities » Abnormalities, Multiple » Loeys-Dietz Syndrome
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » 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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