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Loeys-Dietz syndrome

ORPHA60030
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
UMLS -
MeSH -
MedDRA -

Summary

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.

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Detailed information

Emergency guidelines
Anesthesia guidelines
Review article
Guidance for genetic testing
Article for general public
Clinical genetics review
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