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Loeys Dietz syndrome

Dr Yuranga Weerakkody and Radswiki et al.

The Loeys-Dietz syndrome (LDS) is an autosomal dominant genetic syndrome which has many features similar to Marfan syndrome.

The syndrome is thought to have classical triad of ¹

arterial tortuosity and aneurysms
hypertelorism
bifid uvula or cleft palate

Pathology

It is caused by mutations in the genes encoding transforming growth factor beta receptor 1 (TGFBR1) or 2 (TGFBR2).

Sub types

LDS can be subdivided in LDS type I (LDSI) and type II (LDSII) on the basis of the presence or the absence of cranio-facial involvement

Etymology

It is named after Harry C. Dietz : American (US) phyisican and Bart L. Loeys¹ : Belgian physician.

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