Akhenaten and the Strange Physiques of Egypt’s 18th Dynasty Irwin M. Braverman, MD; Donald B. Redford, PhD; and Philip A. Mackowiak, MD, MBA Akhenaten was one of Egypt’s most controversial pharaohs, in part because of his strange appearance in images produced after he had declared Aten, the Sun-disc, his one-and-only god. Whether these were symbolic representations or realistic ones that indicate a de- forming genetic disorder is the subject of continuing debate. The authors present evidence that the bizarre physical features por- trayed in these images are not only realistic but were shared by many members of Egypt’s 18th Dynasty. The features are best explained by either 2 different familial disorders—the aromatase excess syndrome and the sagittal craniosynostosis syndrome— or a variant of the Antley–Bixler syndrome caused by a novel mutation in one of the genes controlling the P450 enzymes, which regulate steroidogenesis and cranial bone formation. Ann Intern Med. 2009;150:556-560. www.annals.org For author affiliations, see end of text. W hen Akhenaten, also known as Amenophis IV, as- cended Egypt’s Horus Throne of the Living in 1377 BCE, he was ill-prepared to rule the most powerful empire on earth. He had previously been excluded from court functions, possibly because of his strange physique. Al- though some speculate that excessive inbreeding caused his deformities, others point out that he was the product of a gene pool that had not been corrupted by close intermar- riage for at least 2 generations (1). ACASE SUMMARY The distinctive physical features of Akhenaten de- picted in statues and reliefs are at once odd, strikingly diverse, and inconsistent. Likenesses produced at the be- ginning of his reign depict him in traditional pharaonic guise, with a relatively normal face and physique. How- ever, after he created his radical new religion that focused on Aten (the Sun-disc) and became history’s first mono- theist, his images became floridly androgynous, with an elongated head, almond-shaped eyes, lantern-like jaw, pro- truding teeth, and large ears (Figure 1). Some representa- tions show similar distortions of the head, body, and ex- tremities in Akhenaten’s children and his principal wife, Nefertiti (Figure 2). Only a bit more is known of the health of Akhenaten or of his family. He had 6 children by Nefertiti; all were daughters. Many members of his family died during a plague that ravaged his kingdom. Akhenaten survived the plague only to die in the summer of 1359 BCE under ob- scure circumstances (1). THE HERETIC PHARAOH Amenophis was born in ancient Egypt’s royal city of Memphis in approximately 1385 BCE. His father, Ameno- phis III, ruled an empire stretching nearly 2000 miles from the central Sudan to the mountains of Anatolia. An elder brother, named Thutmose after his grandfather, stood in line to inherit the throne but died suddenly in the third decade of his father’s reign, leaving Prince Amenophis the heir apparent. As a youth, Prince Amenophis was assigned undistin- guished tutors. When his father became ill, the ailing king moved his court south to the more salubrious climate of Thebes, where the prince seems to have been hidden from public view until becoming Pharaoh. Amenophis III died in his 38th year on the throne (around 1377 BCE) and was immediately succeeded by Prince Amenophis (now Amenophis IV). At first, little changed. The new king continued to reside at Thebes in his father’s palace and, shortly after his accession, married a strikingly beautiful woman named Nefertiti. Some believe she was a distant relative. In the first or second year of their marriage, she bore a daughter, Meret-aten. Sometime during the new king’s second year on the throne, he experienced a revelation regarding the gods; their temples; their cult images; and the sacred, prescriptive literature. This new insight induced him to decree all the gods of the Egyptian pantheon nonexistent except one, the solar deity. Pursuant to this revelation, he forbade the de- piction of any god or goddess except the falcon-headed human figure bearing a large sun-disc on its head. He then had the great house of the Sun-disc at Karnak transformed into a new, open-air temple, wholly devoid of cultic appa- ratus except for the large altar on which offerings to the sun could be made. He diverted the incomes of the other temples to the new establishment, which caused all other shrines to close their doors. In decorating his new struc- tures, the king commissioned a new artistic style which depicted him in a greatly distorted form as something akin to a “humanoid praying mantis” (1), with all of the bizarre and effeminate features we have enumerated. See also: Print Key Summary Points ....................... 557 Web-Only Conversion of graphics into slides Annals of Internal Medicine History of Medicine 556 © 2009 American College of Physicians