Loeys-Dietz Syndrome 2

Alternative Names

  • LDS2
  • Aortic Aneurysm, Familial Thoracic 3
  • AAT3
  • Marfan Syndrome, Type II
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number


Mode of Inheritance

Autosomal dominant

Gene Map Locus



Loeys-Dietz syndrome-2 (LDS2) is an autosomal dominant connective tissue disorder characterized by hypertelorism, cleft palate or bifid uvula, and arterial tortuosity. Arterial aneurysms are aggressive, with intracranial aneurysms leading to subarachnoid hemorrhage, and risk of aortic dissection is high. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
610168.1Saudi ArabiaFemale Abnormal aortic morphology; Joint laxityNM_003242.6:c.1301T>AHeterozygousAutosomal, DominantMonies et al. 2019 de novo mutation
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