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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Loeys-Dietz Syndrome
Cardiovascular Diseases > Vascular Diseases > Aneurysm > Aortic Aneurysm > Loeys-Dietz Syndrome
Cardiovascular Diseases > Vascular Diseases > Aortic Diseases > Aortic Aneurysm > Loeys-Dietz Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Musculoskeletal Abnormalities > Craniofacial Abnormalities > Loeys-Dietz Syndrome
Musculoskeletal Diseases > Musculoskeletal Abnormalities > Craniofacial Abnormalities > Loeys-Dietz Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > Loeys-Dietz Syndrome

Preferred term

Loeys-Dietz Syndrome  

Type

  • Topical Descriptor

Broader concept

Related concepts

Entry terms

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

Scope note

  • 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.

History note

  • 2010

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URI

http://www.yso.fi/onto/mesh/D055947

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