Loeys-Dietz syndrome: a possible solution for Akhenaten's and his family's mystery syndrome

S Afr Med J. 2012 Jun 14;102(8):661-4. doi: 10.7196/samj.5916.


The presence of a familial disease among royal members of 18th dynasty of the new kingdom who ruled in Egypt from the mid-16th to the early 11th centuries BC has been established, largely prompted by the bizarre body shape of Akhenaten (the iconoclastic pharaoh of this dynasty) and his family, as demonstrated in statues and artwork. It had been thought previously that this was an expression of a revolutionised artistic style that followed radical reforms by Akhenaten of Egyptian society, but recent studies on mummies confirmed the presence of a constellation of corresponding pathologies. Several illnesses have been suggested to solve this enigma; we propose Loeys-Dietz syndrome as a probable diagnosis for this genetic affliction within the royal family.

Publication types

  • Historical Article

MeSH terms

  • Egypt, Ancient
  • History, Ancient
  • Humans
  • Loeys-Dietz Syndrome / genetics
  • Loeys-Dietz Syndrome / history*
  • Mummies
  • Mutation
  • Paleopathology*
  • Pedigree