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Loeys-Dietz syndrome

Disease definition

Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum.


Classification level: Disorder
  • Synonym(s):
    • Aortic aneurysm syndrome due to TGF-beta receptors anomalies
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.4
  • ICD-11: BD50.Z
  • OMIM: 609192  610168
  • UMLS: C2697932
  • MeSH: D055947
  • GARD: 10788
  • MedDRA: 10081284

Detailed information

General public


Disease review articles

Genetic Testing

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