Diseases

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.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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 Record

Classification

Broader headings

Related Concepts

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MeSH Record

See Also

MeSH Record

Synonyms

6 entry terms
  • Loeys Dietz Syndrome
  • Syndrome, Loeys-Dietz
  • Loeys-Dietz Aortic Aneurysm Syndrome
  • Loeys-Dietz Syndrome, Type 1a
  • Loeys Dietz Aortic Aneurysm Syndrome
  • Loeys Dietz Syndrome, Type 1a

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

2010

MeSH Record

Previous Indexing

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

MeSH Hierarchy

Tree Numbers

  1. C05w.660w.207w.532w
  2. C14w.907w.055w.239w.587w
  3. C14w.907w.109.139w.587w
  4. C16w.131w.077w.537w
  5. C16w.320w.510w

AMA Style

References

  1. National Library of Medicine. Loeys-Dietz Syndrome. Medical Subject Headings (MeSH). 2026. Unique ID D055947. http://id.nlm.nih.gov/mesh/2026/D055947
  2. Loeys-Dietz Syndrome. In: Wikipedia. https://en.wikipedia.org/wiki/Loeys%E2%80%93Dietz_syndrome
  3. Loeys-Dietz Syndrome. In: Wikidata. https://www.wikidata.org/wiki/Q3508669