The Mystery of Akhenaten: Genetics or Aesthetics?

by Megaera Lorenz

Painting of Akhenaten scene on papyrus.
    While Akhenaten led a reform on the Ancient Egyptian religion, he also revolutionized Egyptian art. He broke the conventions of Egyptian art by showing himself in warm family scenes with his wife and children, and portraying himself and the rest of the royal family in a much more human and naturalistic manner than any of his predescessors had. The most peculiar result of this art reform, however, was the portrayal of the physical characteristics of the pharaoh himself.
    In sculptures and paintings of Akhenaten, he is shown as having a long, slender neck, a long face with a sharp chin, narrow, almond-shaped eyes, full lips, long arms and fingers, rounded thighs and buttocks, a soft belly, and enlarged breasts. His odd appearance was particularly prominent in art from the early part of the reign. One early statue portrays the king in the nude and without genitalia of any kind.
    These features have puzzled archaeologists since Akhenaten was first discovered in the early nineteenth century, and people have offered many explanations as to why he looked this way.
    One of the early theories was that Akhenaten was actually a woman disguised as a man, and was following in Queen Hatshepsut's footsteps, but this idea has been abandoned (Aldred, C., 1988, pg. 231). The theory that is most in favor at this time is that Akhenaten suffered from some kind of illness or syndrome which caused his odd appearance. The two most likely possibilities proposed in recent years are Froehlich's Syndrome (Aldred, C. 1988, Pg. 232), and Marfan's Syndrome (Redford, D., 1994), (Burridge, A.,1995). This discussion will examine both disorders in detail.

 Froehlich's Syndrome

    The most popular belief is that Akhenaten suffered from Froehlich's Syndrome, an endocrine disorder found most commonly in men.
    The endocrine system consists of the glands in the body which produce and release into the bloodstream certain chemicals known as hormones. Hormones regulate various bodily functions, like glucose and insulin levels in the blood, growth, salt metabolism, and sexuality. The main endocrine gland is the pituitary, located in the forebrain. The pituitary gland is divided into two parts: the anterior pituitary, which regulates the activities of the other glands in the system and is also responsible for the release of growth hormone, and the posterior pituitary, which regulates water and salt metabolism. The pituitary is regulated in turn by the hypothalamus, which also regulates hunger and various other biological functions. (Weiten, W., 1995).
    Froehlich's Syndrome can be caused by a variety things, the most common being a tumor in either the pituitary gland or the hypothalamus (Aldred, C. 1988, Pg. 232), (Brittanica, Vol. 5, 1992, Pg.19).
If Froehlich's Syndrome occurs as a tumor only in the pituitary gland, then it mainly seems to affect the secondary sex characteristics in men. The secondary sex characteristics include body hair and deepening of the voice. The reason that Froehlich's Sydrome causes this lack of sexual development is that the gonads or sex glands (the testes, in men) don't function properly as a result of the impaired functioning of the pituitary. Froehlich's Syndrome also results in infertility, a lack of sex drive, and feminine fat distribution (Aldred, C. 1988, Pg. 232).
    If Froehlich's Syndrome occurs as a tumor in the hypothalamus, then hunger metabolism is affected, and obesity occurs (Brittanica, Vol. 5, 1992, Pg. 19). Since the hypothalamus regulates the pituitary gland, it then also has the effect of stunting sexual development. Stunted physical growth occurs in either situation. Diabetes can also occur along with Froehlich's Syndrome. Sometimes the pituitary will become overactive and cause an overgrown jaw and skull deformities (Aldred, C. 1988, Pg. 232).
    How well does this fit Akhenaten? Overall, not too well. Some of the characteristics associated with Froehlich's Syndrome seem to fit his apparent peculiarities (such as the feminine figure and the prominent jaw), but many of the main symptoms of the illness do not. Akhenaten, despite the fact that he is shown as a eunuch in some of the artwork from his time, seemed to be quite fertile (we know that he fathered six children, possibly more), did not seem to show stunted physical growth, and was definitely not obese. Another symptom of Froehlich's is severe mental retardation (Burridge, A., 1995), and it is apparent from literary works by the king that he was not at all retarded.
Therefore, it is unlikely that Akhenaten had Froehlich's Syndrome, and historians have turned to another option: Marfan's Syndrome.

Marfan's Syndrome:
    The most recently suggested possibility for Akhenaten's supposed pathology is a genetic disorder known as Marfan's Syndrome. This is a more likely possibility than Froehlich's Syndrome, as it does not affect intelligence or fertility (Burridge, A., 1995), (Redford, D., 1994).
    Marfan's Syndrome was first described by a French doctor named Antione B. Marfan, who reported that some of his patients had especially long fingers (he called this arachnodactyly, or spider-fingers), skeletal abnormalities (including arms that were disproportionately long), and high, arched pallets. He also noticed spine defects (Wieczorek, Riegel, & Quattro, 1996).
    Antione noted that these traits seemed to be inherited, and it is now certain that Marfan's Syndrome is a hereditary disease, and the gene for it is autosomal dominant (Wieczorek, Riegel, & Quattro, 1996).
    A dominant gene is one that will overwrite other genes so that only one is required for the trait that that particular gene carries to be expressed. A person who inherits a dominant gene from one parent will automatically have the trait that the gene produces, unlike with recessive genes in which a gene for the trait must be inherited from each parent for the trait to show. Autosomal means that the gene is on a non-sex chromosome. There are 46 chromosomes in every human cell, and they make 23 pairs, each one connected by a centrome. The 23rd pair consists of the sex chromosomes (American Medical Association, 1993). The gene for Marfan's Syndrome is located on pair fifteen. This gene causes the occurrence of too many microfibrillar fibers in the connective tissue, which results in a lack of flexibility in the body's tissues (Wieczorek, Riegel, & Quattro, 1996).
    Marfan's Syndrome almost always occurs as an inherited trait (about 75 to 85 percent of the time), but it can sometimes show up spontaneously in a person from a family that has never shown any signs of the disorder. Marfan's Syndrome, because it is dominant, will not skip generations (Wieczorek, Riegel, & Quattro, 1996). (A recessive gene can be passed on without showing up for many generations, because two are needed for the trait to show, but if a dominant gene is going to show up, it will do so right away.) Marfan's syndrome has a 50% chance of being passed on to the children of an affected person. If the gene for Marfan's Syndrome is passed on, it will invariably show up, but the degree to which it shows its symptoms varies considerably (Bruckheim, A. H., 1993).
    Skeletal abnormalities that have been noticed in Marfan's patients are a long face, an unusually tall stature, a short upper body in comparison to the lower body (because they have a short ribcage), and overgrown ribs. The latter results in chest deformities such as Pectus Excavatum (funnel chest) or Pectus Carnatum (pigeon breast). A wide pelvis, elongated skull, and prominent shoulder blades are other symptoms (Burridge, A., 1995). One of the most distinctive characteristics of Marfan's Syndrome is unusually long arms, fingers, and toes. These skeletal problems can show up in either childhood or adolescence, and sometimes they do not show up at all (Wieczorek, Riegel, & Quattro, 1996). Extremely mobile joints are another common characteristic.
    A good many victims have eye problems, like dislocated lenses, severe nearsightedness, iridodensis (a quivering motion of the iris), cataracts, detaching retinas, and glaucoma (Wieczorek, Riegel, & Quattro, 1996).
    Because of the excessive fibers in the tissues of people with Marfan's Syndrome, their tissues often stretch to the point of breaking under the strain of normal tissue stress. There are often stretch marks on the skin, as a result of this. When this sort of stretching occurs in the aorta (the major artery that comes out of the heart), it can break, resulting in major complications (Wieczorek, Riegel, & Quattro, 1996). Because of the heart problems, people with Marfan's Syndrome usually have a short life-span, perhaps of about thirty years (Burridge, A., 1995). People with Marfan's Syndrome often suffer from various lung problems as well. Most patients show signs of emphysema, and 5% of the people with Marfan's Syndrome have problems with collapsed lungs (Bruckheim, A. H., 1993).
    Muscle weakness may also occur (Bruckheim, A. H., 1993). This, along with the hypermobile joints, can result in accident proneness.
    Marfan's victims also show a strong sensitivity to cold (Burridge, A., 1995).
    Some other famous people who have been suggested as having Marfan's Syndrome are Abraham Lincoln, Sergie Rachmaninoff, Niccolo Paginini, Mary, Queen of Scots, and Flo Hyman (Burridge, A., 1995; Wieczorek, Riegel, & Quattro, 1996).
    From this information, it would seem that Marfan's Syndrome best suits Akhenaten's possible affliction. He did show traits like arachnodactyly, an unusually long face, a tall, slender build, and a wide pelvis. His relatives are shown as having similar features, and elongated skulls. The fact that the rest of his family apparently showed some of these traits also suggests that he had a genetic disorder such as Marfan's Syndrome. He also lived for about the amount of time that a Marfan's victim lives without medical assistance.

Other Theories:

    Did Akhenaten really have any kind of ailment at all? There is certainly a possibility that there was nothing wrong with him. Any conclusions drawn simply from looking at artwork are highly questionable. If historians three thousand years in the future were to come to the same sorts of conclusions from looking at today's political cartoons, for instance, they would probably think that just about every president or political leader that the U.S. has ever had suffered from some kind of bizarre disorder. A good many people have offered alternative explanations as to why Akhenaten was portrayed so strangely.
    One theory is that it was some form of religious symbolism. Because the god Aten was referred to as "The mother and father of all human kind," it has been suggested that Akhenaten was made to look androgynous in artwork as a symbol of the androgyny of the god (Aldred, C. 1988, Pg. 235).
It has also been suggested that the distinctive art of this time was some kind of expressionistic art style, and it has been pointed out that everyone depicted in the artwork of the period showed some of the odd features of the king and his family.
    One thing that would suggest that Akhenaten did have an illness of some kind was the fact that he remained hidden for a good portion of his father's reign. Normally, a great deal of attention would be devoted to the heir to the throne. It should be noted that Akhenaten had an older brother, Tuthmose, who died at an early age. Perhaps if Marfan's Syndrome did run in the family, Tuthmose's early death was a result of some of the complications associated with the disease. If this were the case, though, one would have to wonder why Tuthmose was not hidden as well. Perhaps he did not show some of the more visible abnormalities that are sometimes present, such as the skeletal problems. The extent to which various symptoms of the illness show up can vary greatly.
    Before any specific ailments were suggested, some historians speculated that Akhenaten's possible illness may have somehow accounted for his strange behavior. This is probably not the case, but Akhenaten did call himself "The Unique One of Re," and it would seem that he used his odd appearance as part of this image.
    No mummy has yet been identified as being that of Akhenaten. Obviously, it would be hard to tell whether he had symptoms like bad eyesight or heart problems, even if his body were to be found. However, the bodies of several of Akhenaten's known relatives have been found, and a reasonably sure way we would have of finding out whether Akhenaten had Marfan's Syndrome would be to do genetic testing on his known relatives. If this were to be done, it would provide invaluable information about Akhenaten and his family.

Encyclopedia Brittanica, Inc. Fröhlich's Syndrome Encyclopedia Britannica Vol. 5, 15th ed. Encyclopedia Britannica, Inc., 1992
Aldred, C. 1988. Akhenaten, King of Egypt. Thames and Hudson, Ltd.,
Brukheim, H., 1993. Marfan's Syndrome, Art. # 27, The Family Doctor Comp. Software. J. D. Grillo, pub.
Burridge, A., Did Akhenaten Suffer From Marfan's Syndrome? Akhenaten Temple Project Newsletter No. 3, Sept. 1995
Clayman, C., ed. , 1993. American Med. Association: Genes and
Inheritance The Reader's Digest Association, Inc., NY & Montreal (from AMA Medical Home Library series)
Redford, D., 1994. personal communication
Wagman, R., ed. , 1992. Vol. 2 of The New Complete Medical and Health Encyclopedia , 4 Vols. J. G. Furguson Pub. Co., Chicago
Wieczoreck, P., Reigel, M. B., & Quattro, L., 1996. Marfan's Syndrome and Surgical Repair of Ascending Aortic Aneurysms. AORN Journal. 64(6)
Wieten, W., 1995. Psychology: Themes and Variations 3rd ed. Brook/Cole Publishing

This paper was written in 1996 and published here 8/23/98.
Updated 1/15/00.

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