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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.

ORPHA:60030

Classification level: Disorder
  • Synonym(s):
    • Aortic aneurysm syndrome due to TGF-beta receptors anomalies
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.4
  • OMIM: 609192  610168
  • UMLS: C1836635  C2697932
  • MeSH: -
  • GARD: 10788
  • MedDRA: -

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.