Terminology Service for NFDI4Health

Loeys-Dietz Syndrome

Go to external page http://purl.obolibrary.org/obo/NCIT_C75006


A rare autosomal dominant syndrome caused by mutations in the TGFBR1 or TGFBR2 genes. It is characterized by vascular abnormalities including aortic and arterial aneurysms, aortic dissection, and tortuosity of the arteries. Other findings include scoliosis, long fingers, and joint hypermobility. Patients with TGFBR1 gene mutations also exhibit hypertelorism, bifid uvula, and early fusion of the skull bones. [ ]

Term info

Label

Loeys-Dietz Syndrome

Synonyms
  • Loeys-Dietz Syndrome
Legacy Concept Name

Loeys_Dietz_Syndrome

Preferred Name

Loeys-Dietz Syndrome

Semantic Type

Disease or Syndrome

UMLS CUI

C2697932

code

C75006

Term relations