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Loeys-Dietz syndrome

ORPHA60030
Synonym(s) Aortic aneurysm syndrome due to TGF-beta receptors anomalies
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset Infancy
Neonatal
ICD-10
  • Q87.4
OMIM
UMLS -
MeSH -
MedDRA -

Summary

Loeys-Dietz syndrome is a recently described syndrome characterized by the association of aortic aneurysms, hypertelorism (widely spaced eyes), cleft palate and/or bifid uvula and generalized arterial tortuosity. Other findings include craniosynostosis, exotropy, micrognathia and retrognathia, structural brain abnormalities, intellectual deficit, congenital heart disease, translucent skin, joint hyperlaxity and aneurysm with dissection throughout the arterial tree. The mode of inheritance is autosomal dominant with variable clinical expression. Causative mutations have recently been identified in the TGFBR1 and TGFBR2 genes, located on chromosome 9q33 and chromosome 3p22, respectively. Loeys-Dietz syndrome should be considered in the differential diagnosis of vascular Ehlers-Danlos syndrome, Marfan syndrome and Shprintzen-Goldberg syndrome.

Expert reviewer(s)

  • Pr Dominique GERMAIN

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Detailed information

Emergency guidelines
  • FR (2012,pdf)
Anesthesia guidelines
  • EN (2013,pdf)
Guidance for genetic testing
  • EN (2011,pdf)
Clinical genetics review
  • EN (2013)
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