Loeys-Dietz syndrome

Radswiki et al.

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

The syndrome features a classical triad of 1:

Pathology

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

Subtypes

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

History and etymology

It is named after Harry C. Dietz, an American (US) physician and Bart L. Loeys 1 a Belgian physician.

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Article Information

rID: 15007
Synonyms or Alternate Spellings:
  • Loeys Dietz syndrome (LDS)
  • Loeys-Dietz syndrome

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