Loeys-Dietz Syndrome

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.

Year introduced: 2010

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Do not include MeSH terms found below this term in the MeSH hierarchy.

Tree Number(s): C05.660.207.532, C14.907.055.239.587, C14.907.109.139.587, C16.131.077.537, C16.320.510

MeSH Unique ID: D055947

Entry Terms:

• Loeys Dietz Syndrome
• Syndrome, Loeys-Dietz
• Loeys-Dietz Syndrome, Type 1a
• Loeys Dietz Syndrome, Type 1a
• Loeys-Dietz Aortic Aneurysm Syndrome
• Loeys Dietz Aortic Aneurysm Syndrome

Previous Indexing:

• Aortic Aneurysm (2005-2009)
• Marfan Syndrome (2005-2009)

See Also:

• Ehlers-Danlos Syndrome
• Marfan Syndrome

All MeSH Categories
Diseases Category
Musculoskeletal Diseases
Musculoskeletal Abnormalities
Craniofacial Abnormalities
Loeys-Dietz Syndrome

All MeSH Categories
Diseases Category
Cardiovascular Diseases
Vascular Diseases
Aneurysm
Aortic Aneurysm
Loeys-Dietz Syndrome

All MeSH Categories
Diseases Category
Cardiovascular Diseases
Vascular Diseases
Aortic Diseases
Aortic Aneurysm
Loeys-Dietz Syndrome

All MeSH Categories
Diseases Category
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities
Abnormalities, Multiple
Loeys-Dietz Syndrome

All MeSH Categories
Diseases Category
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Loeys-Dietz Syndrome