Was pharaoh’s odd appearance genetic?

Akhenaten, the Egyptian ruler who was husband to Nefertiti and father to Tutankhamen, is best known for two things: he was the first historical figure to embrace monotheism, and he was “one funny-looking pharaoh,” according to Irwin M. Braverman, M.D. ’55, HS ’56, a Yale dermatologist with overlapping passions for art and medicine.

Scholars have attributed this odd appearance—androgynous, with wide hips, an elongated head, almond eyes, square jaw, and womanly breasts—to various causes. Early representations of the pharaoh depict a normal head and body, but after Akhenaten embraced the Sun-disk god, Aten, as the one and only deity, his gender in sculptures and carvings became more ambiguous. His changing appearance has led to speculation that the depictions were metaphorical, meant perhaps to portray Akhenaten as the father and mother of all humankind.

Opposing explanations suggest that the changing images were realistic and reflect a genetic disorder. Braverman is firmly in this second camp. “This is not just artistic license,” says Braverman, professor emeritus of and senior research scientist in dermatology and co-author of a 2009 paper in the Annals of Internal Medicine that examined the issue. With colleagues from Maryland and Pennsylvania, he proposed that two familial disorders—aromatase excess syndrome and sagittal craniosynostosis syndrome—were the most likely candidates. A third possibility is a mutation in the gene for a class of enzymes that was responsible for both the cranial and endocrine abnormalities of members of Egypt’s 18th dynasty. Braverman would like to settle the question through DNA analysis of mummified remains, but attempts to obtain samples have been unsuccessful.

If Akhenaten passed down gene mutations that conferred his strange physical characteristics on his progeny, he did not pass on his most notable quality, belief in only one god. Despite the pharaoh’s single-minded concept, the Sun-disk did not endure. After Akhenaten’s death in 1336 BCE, the cult that he had established faded from prominence, and Egypt returned to the worship of the many gods and goddesses that had preceded Akhenaten.