SkeletalDysplasia.egypt.2008

� 2008 Wiley-Liss, Inc. American Journal of Medical Genetics Part A 146A:3104–3112 (2008)

Historical Review

Skeletal Dysplasia in Ancient Egypt

Chahira Kozma1*1Department of Pediatrics, Georgetown University Hospital, Washington, District of Columbia

Received 14 April 2008; Accepted 30 June 2008

The ancient Egyptian civilization lasted for over 3000 yearsand ended in 30 BCE. Many aspects of ancient Egyptianculture, including the existence of skeletal dysplasias, andin particular achondroplasia, are well known through themonuments and records that survived until modern times.The hot and dry climate in Egypt allowed for the pre-servation of bodies and skeletal anomalies. The oldest dwarfskeleton, the Badarian skeleton (4500 BCE), possibly repre-sents an epiphyseal disorder. Among the remains of dwarfswith achondroplasia from ancient Egypt (2686–2190 BCE),exists a skeleton of a pregnant female, believed to have diedduring delivery with a baby’s remains in situ. Britishmuseums have partial skeletons of dwarfs with achondro-plasia, humeri probably affected with mucopolysaccharido-ses, and a skeleton of a child with osteogenesis imperfecta.Skeletal dysplasia is also found among royal remains. Themummy of the pharaoh Siptah (1342–1197 BCE) shows adeformity of the left leg and foot. A mummified fetus,

believed to be the daughter of king Tutankhamun, hasscoliosis, spina bifida, and Sprengel deformity. In 2006I reviewed the previously existing knowledge of dwarfism inancient Egypt. The purpose of this second historical review isto add to that knowledge with an expanded contribution. Theartistic documentation of people with skeletal dysplasia fromancient Egypt is plentiful including hundreds of amulets,statues, and drawing on tomb and temple walls. Examinationof artistic reliefs provides a glance of the role of people withskeletal dysplasia and the societal attitudes toward them.Both artistic evidence and moral teachings in ancient Egyptreveal wide integration of individuals with disabilities intothe society. � 2008 Wiley-Liss, Inc.

Key words: skeletal dysplasia; dwarfs; dwarfism; pigmy;achondroplasia; ancient Egypt; osteogenesis imperfecta;short stature; mummy; disability

How to cite this article: Kozma C. 2008. Historical review II: Skeletal dysplasia in ancient Egypt.Am J Med Genet Part A 146A:3104–3112.

INTRODUCTION

Around 5000 BCE, a highly advanced culturedeveloped in northeastern Africa along the banksof the Nile River marking the beginning of over3,000 years of pharaonic civilization (Table I).Impressive monuments were erected in the nameof kings including massive temples, pyramids forroyal burials, and obelisks. Complex cities wereunified under a single state government that joinedUpper and Lower Egypt. Texts written on papyrus,temple walls, and tombs helped reveal the complexadministration of the country as well as many aspectsabout the life of this ancient society, including that ofpeople with skeletal dysplasia. While many types ofdwarfism and short stature were documented inancient Egypt, most skeletal remains and artisticpictures identify achondroplasia as the most com-mon type of short stature. However, the evidence ofother types of skeletal dysplasia is plentiful includingbiological, artistic, and written documentation. Thehot, dry climate and elaborate burial and mummifi-

cation systems allowed the preservation of skeletalremains.

In a previous historical review [Kozma, 2006],the author exclusively reviewed dwarfism andachondroplasia in ancient Egypt. The purpose ofthe second review is to expand on the different typesof skeletal dysplasia, and to inform the medicalcommunity of the rich legacy of ancient Egyptiancivilization, in particular their positive attitudestoward individuals with disabilities. Because thisarticle is intended to be comprehensive, it contains abrief discussion about dwarfism and achondroplasia,and includes all available figures of skeletons, someof which were already published in the first review.

*Correspondence to: Chahira Kozma, M.D., 2PHC, Department ofPediatrics, Georgetown University Hospital, 3800 Reservoir Rd, N.W.,Washington, DC 20007. E-mail: [email protected]

Published online 12 November 2008 in Wiley InterScience(www.interscience.wiley.com)

DOI 10.1002/ajmg.a.32501

The reader however, is encouraged to revisit the firstarticle for detailed information about achondropla-sia, especially the artistic evidence, elite dwarfs, andthe discussion about the dwarfs gods, Bes and Ptah.

In general, the sources of evidence of skeletaldysplasia in ancient Egypt come from biologicalremains and artistic evidence. The artistic sources arequite plentiful since the ancient Egyptians delightedto have pigmies or dwarfs in their household, andrecorded many details of their life [Dasen, 1988].Several elite dwarfs from the Old Kingdom achievedvery important status and had lavish burial in theroyal cemeteries. Furthermore, dwarfs gained scaredstatus and at least two gods, Ptah and Bes, wereachondroplastic dwarfs. Artistic sources, however,can be open to bias interpretation; therefore bio-logical sources are the most objective evidence ofthe existence of genetic conditions. The remains ofpeople with skeletal dysplasia are abundant andinclude complete and partial skeletons. Some ofthese anomalies are catalogued and published in themedical and archeological literature and some areknown from excavators’ account. ‘‘Dwarfs in AncientEgypt and Greece,’’ continues to provide a veryextensive review of dwarfs in ancient Egypt [Dasen,1993].

BIOLOGICAL EVIDENCE OF SKELETALDYSPLASIA

The Badarian Skeleton

The earliest biological evidence for skeletal dys-plasia in ancient Egypt dates to the Badarian Periodaround 4500 BCE [Jones, 1932]. It was originallylocated at the Museum of the Royal College ofSurgeons in England, and its current location isunknown. With the exception of a mild flattening ofthe angle of the base, the skull and mandible arenormal. The clavicles are slim, and the small bones ofthe hands, the ribs, and the scapulae are normal. Theleft humerus is quite short; its head pitted againstthe fovea, very irregular, and lacks the even contour.The radii and ulnae are remarkably small and

symmetrical with the radial tuberosity and ligamen-tous prominences of the radii pronounced and theset of the head more oblique than the normal. Uponradiological examination, the texture of bones isnormal (Fig. 1). The author suggested that these

TABLE I. Ancient Egypt Timeline

Prehistoric and Predynastic Periods 3100 BCEEarly Dynastic Period 3100–2700 BCEOld Kingdom 2700–2184 BCEFirst Intermediate Period 2184–2040 BCEMiddle Kingdom 2040–1782 BCESecond Intermediate Period 1782–1570 BCENew Kingdom 1570–1070 BCEThird intermediate Period 1070–747 BCELate Period 747–332 BCEGreco Roman Period 332–AD

Ancient Egypt is considered to have begun about 3100–3050 BC. Thecivilization had three flowerings, called by historians the Old, Middle, andNew Kingdoms, interrupted by mini-dark ages, called Intermediate Periods,when Egypt was temporarily conquered by opposing empires [www.thebanmappingproject.com].

FIG. 1. The Badarian skeleton. (a) Skull, (b) mandibles, (c) clavicles,(d) radii, (e) ulnae, (f) humeri, (g) vertebrae.

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abnormalities are not characteristic of achondro-plasia and represent another type of short-limbeddwarfism. Other experts have suggested the possi-bility of multiple epiphyseal dysplasia.

The Dwarf From the Tomb Complexof King Wadj

The skeleton dates to 3100–2800 BCE and islocated at Cairo University, Egypt (Fig. 2). Whenunearthed, the tomb was intact and contained fourdifferent types of jars. The long bones are very short,and the fibulae bowed. Initially the abnormalitieswere thought to be secondary to rickets [Emery,1954]. However, other Egyptologists attributed thepathology to short limb dwarfism [Weeks, 1970].

The Dwarfs From the Tombof King Semerkhet

The skeletons date to 3050–2890 BCE and consistof calvaria, facial bones, lower jaw, and long bones(Fig. 3). The skull vault is of normal size. However,the skull base is shortened due to the very shortbasioccipital diameter. The shortened skull basecontributes to the appearance of a depression inthe middle third of the face. The nasal bones and thefrontal processes of the maxilla are broad. There isprognathism of the alveolar portion of the maxilla.The adult teeth erupted with minimal wear, and thefused epiphyses and apophyses indicate youngadulthood. The long bones are very short. The tibiaehave slight medial bowing of the distal half and thehumerus is short, with the abnormal joint pathologyassociated with achondroplasia. The diaphyses of allthe long bones have near normal diameters, indicat-

ing normal periostal bone formation [Putschar andOrtner, 1985]. The measurements of the bones are asfollow: Femur: maximum length 250 mm, humerus:maximum length 165 mm, fibula: maximum length213 mm, tibia: maximum length 215 mm, tibia:maximum length 202 mm, fibula: maximum length227 mm, tibia maximum length 212 mm.

The Dwarf Pereniankh

Pereniankh was an elite dwarf who lived in the OldKingdom between 2350 and 2175 BCE. His statueis on display at Cairo Museum, Cairo. His tombcontained his skeleton and statue, and also those ofhis wife [Hawass, 2004]. His funerary statue showinghim seated on a chair and wearing a short kilt. Hisneck is short and thick. His extremities especially hislegs are short (Fig. 4). Examination of his skeletonrevealed that he was about 40 years old when hedied. The facial part of his skull is missing. The restof his skeleton showed the characteristics traits ofachondroplasia, short and squat upper and lowerlimbs. When compared, the measurements of thelong limbs of the skeleton and those of the statuewere matched, and the conclusion was made thatthere was a realistic attempt to model Pereniankhskeletal disorder [Filer, 1995]. His legs are differentin size, possibly due to elephantiasis. Both sides ofhis chair are inscribed with his name and titles, ‘‘thedancing dwarf in the Great Palace, the one whopleased his majesty everyday, Per-ni-ankh-w.’’

Mucopolysaccharidoses

The Natural History Museum in London has aspecimen that consists of two humeri from early

FIG. 2. Left: A skeleton of a male with achondroplasia from the Old Kingdom. Right: A skeleton of an average size person from the same burial complex forcomparison. Courtesy of the Egypt Exploration Society, London.

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dynastic Egypt [Brothwell, 1965]. Both humeri areabnormally short. The diaphysis is normal indiameter, with a well-developed deltoid tuberosity.However, the humeral head exhibits severe malfor-mation of the articular surface with pitting of thesubchondral plate, particularly on the right. The lefthumerus is about 2 cm shorter than the right (Fig. 5).Ortner and Putschar, however, argued against chon-drodysplasia and suggested mucopolysaccharidosesbecause of the almost complete failure in thedevelopment of the epiphysis. The fusion of thedistal humeral epiphyses and apophyses indicatesa minimum age of about 14 or possibility of youngadulthood.

Osteogenesis Imperfecta

A rare example of osteogenesis imperfecta comesfrom ancient Egypt, and dates to 1000 BCE. It consistsof a painted coffin and a skeleton of a small child. It isbelieved that the coffinprotected the skeleton,whichconsists of skull bones, clavicles, ribs, long bones ofthe upper and lower extremities and a few smallbones of the hands (Fig. 6). In general, the bones areof a pale brown color, friable, and extremely light.The skull is described to have the Tam O’Shanter

FIG. 3. Anterior view of skull and long bones of dwarfs. Specimen BMNHAF.11.41427. Courtesy of the Natural History Museum, London. [Color figurecan be viewed in the online issue, which is available at www.interscience.wiley.com.]

FIG. 4. A funerary statue of the dwarf Pereniankh showing him seated ona chair and wearing a short kilt. Cairo Museum, Cairo. [Color figure can beviewed in the online issue, which is available at www.interscience.wiley.com.]

FIG. 5. Humeri with possible mucopolysaccharidoses. Specimen BMNHAF.11.3/75. Courtesy of the Natural History Museum in London. [Color figurecan be viewed in the online issue, which is available at www.interscience.wiley.com.]



effect (a tight-fitting Scottish cap). The weight of thebrain cannot be supported and settled into a beretlike effect. The skull has an enlarged vault withmultiple wormian bones and ossification centers.Most of the teeth were scattered amongst thebones. They are brittle, discolored, and have poorlydeveloped roots. Furthermore, the teeth have adisorder of the tubular structure of the dentine,which is compatible with dentinogenesis imperfecta.The long bones were deformed and the bones ofthe lower extremities are showing significant antero-lateral bowing. Radiographic examination of thebones showed the cortex to be composed of thinwavy lines, and the spongiosa being reduced toscattered amorphous wisps [Gray, 1970].

The Stillborn Children ofKing Tutankhamun

King Tutankhamun (1341–1323 BCE) was prob-ably the son of Amenhotep IV (better known asAkhenaten) and Kia, a minor queen. King Tutank-hamun was married to Ankhesenamun, his half sisterand the daughter of Akhenaten and his famous wife,queen Nefertiti. It is believed that they had twochildren, both stillborn. Both fetuseswere embalmedand enclosed in miniatures coffins in the tomb ofking Tutankhamun. The first fetus, a female, wasestimated to be about 5 months of gestation. Thesecond fetus, also a female, was about 8 or 9 monthsgestation. When the body was examined andX-rayed, it was found to have scoliosis, spina bifida,and Sprengel deformity which is a condition where

FIG. 6. A skeleton of a child with osteogenesis imperfecta. Registry # 41603.Courtesy of the British Museum of London.

FIG. 7. The mummy of pharaoh Siptah showing a deformity of the left legand foot. Cairo Museum, Cairo.

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the scapula on one or both sides are underdevelopedand abnormally high [Harrison et al., 1979].

The Pharaoh Siptah

The mummy of the pharaoh Siptah (1194–1188BCE) shows a clear deformity of the left leg and foot(Fig. 7) due to either poliomyelitis, clubfoot deform-ity, or cerebral palsy [Smith, 2000]. The diagnosisof poliomyelitis continues to be debated after themummy was reexamined [Aufderheide and Rodri-quez-Martin, 1998]. It was observed that the leftfoot compensated the shorter leg by dislocation ofthe tarsal and metatarsal bones, tendon and muscles.Themummy is ondisplay in theRoyalMummyRoomin Cairo Museum, Cairo.

ARTISTIC EVIDENCE OF SKELETAL DYSPLASIA

Since Predynastic Times, many dwarf statuetteswere found in burial places suggesting that theywere prized enough to accompany the deceased tothe after life [Randall, 1985]. The artistic evidenceof skeletal dysplasia, especially of dwarfs, is quiteabundant and covers the full spectrum of Egyptiancivilization [Dawson, 1938]. Among the treasures ofKing Tutankhamun, there is a female dwarf thathas the typical characteristics of achondroplasia. Inaddition, she has bowed legs and clubfeet deformity.

Elite Dwarfs

Therewere several high-ranking dwarfs, especiallyfrom the Old Kingdom (2686–2190 BCE), who hadmagnificent burial sites close to the pyramids.Conclusions can be drawn from the inscriptions ontheir costly tombs and captions on their statues,about the roles they played in ancient Egyptiansociety, and their close relation to the king [Hamadaand Rida, 1972]. Some of them were Seneb,Pereniankh, Khnumhotpe, and Djeder [Ghaliounguiet al., 1965]. The dwarf Seneb who lived duringthe 4th or early 5th Dynasty had a very importantposition. He was overseer of the palace dwarfs, chiefof the royal wardrobe, and priest of the funerary cultof the pharaoh Khufu who ruled Egypt between 2589and 2566BCE.An exquisite statue depicts Senebwithhis priestess wife who was of average stature, andtwo of his three children at Cairo Museum. He wasburied at the royal necropolis in Giza. The dwarfKhnumhotpe held the title of the ‘‘Keeper of theRoyal Wardrobe.’’ Another elite dwarf is Pereniankhwho was described in the section of biologicalevidence. ThedwarfDjehowho livedduring the 30thDynasty has a very impressive representation inCairo Museum. He was an achondroplastic dwarf.His life size naked figure, which measures 120 cm,is carved in a profile on the lid of his granitesarcophagus and shows superb details of his facial

and disproportionate short upper and lower limbs[Baines, 1992].

Dwarf Gods

In ancient Egyptian society, dwarfs were also in theform of gods. The dwarf gods, Ptah and Bes were thebest known and were involved in magical practicesto protect the living and the dead.

The God Bes

The god Bes, the dwarf god of music and warfare,was a very popular dwarf as well as the patron ofmany functions. His cult lasted from the Old King-dom until the Greco Roman Period [Hawass, 2000].He was often depicted on household items, cosmeticcontainers, and medicine bottles. He is representedwith a large skull and a prominent forehead. He hasproximal shortening of the upper and lower extrem-ities. Frequently, he is shown in a hybrid naturecombining animal and feline features, and wearing amonkey skin on his back. He was also featured in theMammisi or birth houses, which were located nearmajor temples (Fig. 8). Although the role of Bes hasevolved significantly through the Dynasties, his mostimportant function was the protection of womenduring childbirth. In several papyri from 1539 to1069 BCE, the magical power of dwarfs, perhaps thegod Bes, is appealed to protect women in childbirthand delivery of the placenta. In a magical papyrus atLeiden, there is a spell to facilitate birth, called ‘‘thespell of the dwarf’’: O good dwarf, come, because ofthe one who sent you . . . come down placenta, comedown placenta, come down!

FIG. 8. A statue of the god Bes. Hathor Temple in Dendra, Upper Egypt.[Color figure can be viewed in the online issue, which is available at www.interscience.wiley.com.]



The prayer was to be recited four times over a clayfigure of the dwarf god that had been placed on thehead of the woman in labor. In the spell of the Vulva,the woman in labor pain screams: ‘‘To the man for adwarf-statute of clay’’ [Borghouts, 1971].

The God Ptah

The god Ptah was the master architect of theuniverse. He was a god of creation and, according todifferent traditions, either fashioned man or createdthings by speaking their names. He was a god ofcraftsmen, artisans and artists designers, builders,architects, masons, and metal workers [Aterman,1999]. He is shown in human form as a bearded manwearing a skullcap and shrouded as a mummy.Occasionally, he is depicted as a dwarf withachondroplasia [Melzer, 1986]. In his dwarf form,the god Ptah is quite distinct from the god Bes. He isnaked with short limbs, has a relatively long trunk,and a large head with prominent forehead. Hetypically does not carry weapons. Sometimes he isshown grasping and biting snakes to highlight hisprotective role against harmful creatures threateningancient Egyptian people (Fig. 9).

Ordinary Dwarfs

Dwarfs were frequently depicted in Old Kingdomroyal and noble tombs in the necropolises of Saqqara

and Giza (Fig. 10). They performed many societalroles including jewelers, animal tenders, personalattendants, dancers, fishermen, and nurses [Sampsell,2001].

The Doorkeeper Roma

A funerary stela that dates to the 18th or 19thDynasty shows the doorkeeper Roma with a legabnormality, which required him to use a cane. Theleg is wasted and shortened and accompanied byan equinus deformity of the foot (Fig. 11). The exactnature of this deformity, however, continues tobe debated. Some favor that Roma’s deformity isthe result of a congenital clubfoot deformity witha secondary wasting and shortening of the leg. Theother view is that of a case of poliomyelitis contractedin childhood before the completion of skeletalgrowth [Nunn, 1996].

The Queen of Punt

During the ninth year of her reign, QueenHatshepsut, who ruled Egypt between 1479 and1457 BCE, dispatched an expedition to the land ofPunt to obtain precious commodities. The land ofPunt is thought to be near present-day Somalia andEritrea. The details of the expedition, includingportraits of the prince and Queen of Punt, arerecorded on the walls of Deir El Bahri temple, inUpper Egypt. The queen of Punt has an unusualfigure. Her face is rough and rugged. She is obesewith multiple skin folds and symmetrical depositsof fat on the trunk, limbs, and thighs. Her upperextremities and hands are normal except for theexcess skin folds. Her legs are very short. Her spine isbent forward due to significant lordosis (Fig. 12). Thequeen’s daughter has a similarly but less pronouncedappearance, which may suggests a familial pattern.The illustration of the queen of Punt continues toarouse the curiosity of physicians and Egyptologistsalike. Several differential diagnoses have been pro-posed to explain the queen pathology includingLaunois Bensaude lipomatosis, Dercum disease(significant fat accumulation), neurofibromatosistype I, lipodystrophy, achondroplasia, familial obe-sity, Proteus syndrome, elephantiasis, and X linkeddominant hypophosphatemic rickets. Steatopygiahas been suggested. It refers to significant fataccumulation in and around the buttocks and isusually seen as a normal variant in some tribes inSouth West Africa. Recently Farag and Iskandarcoined a new pathology ‘‘Queen of Punt Syndrome’’[Farag et al., 1999]. Without a mummy, her conditionpersists to be a diagnostic dilemma given rise tonumerous speculations.

The Pygmies Dancers

Cairo Museum has three pygmy dancers that dateto the Middle Kingdom (1990–1780 BCE). The

FIG. 9. The god Ptah standing on heads of two crocodiles and holdingsnakes in each hand. At sides, two standing goddesses. Catalogue # 48.1602.Courtesy of the Walters Art Museum, Baltimore, Maryland.

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statues are part of an ivory toy. They are connected toa string, and danced when the string was pulled.They represent a realistic depiction of pygmies whowere imported to ancient Egypt from Central Africafor their dancing ability. They have round faces,broad noses, and thick lips. Contrary to achondro-plastic dwarfs, their bodies are stout and proportion-ately short [Martino, 2005]. They have bulgingbuttocks and bowed legs, which is typical of pygmiesof Southern Africa.

CONCLUSION

The artistic sources and biological evidenceprovide a rich legacy and documentation of the

positions of individuals with skeletal dysplasia indaily life in ancient Egypt, and their acceptance inthe society. In the tombs of some high officials,individuals with disabilities are depicted along sidethe deceased. In the tomb of Baqt I who was an eliteman, there is a dwarf, a man with hunchback, and aman with clubfeet, who accompany the tomb ownerin the after life (Fig. 13). It is believed that thesemen had a prestigious status due to their proximityto the tomb owner and wearing pointed kilts[Newberry, 1893].

The ancient Egyptians had a positive attitudetoward individuals with disabilities. Physical deform-ity may have been received as a positive mark ofdivinity [Sullivan, 2001]. They followed a strict moralconduct as expressed in their wisdom teaching.Amenemope, a wise man who lived in 1391–1354 BCE said [Simpson, 1973]:

FIG. 10. A statue of a male dwarf carrying a load on his back. Courtesy of the Oriental Institute. Chicago, USA.

FIG. 11. The Doorkeeper Roma with his wife and child (1550–1080 BCE).Specimen ÆIN 134. Courtesy of New Carlsberg Glyptotek, Copenhagen.[Color figure can be viewed in the online issue, which is available at www.interscience.wiley.com.]

FIG. 12. A relief of the queen of Punt from Deir El Bahari Temple. jde 14276.Cairo Museum, Cairo. [Color figure can be viewed in the online issue, which isavailable at www.interscience.wiley.com.]



Beware of stealing from a miserable man,And of raging against the cripple. Do not stretchout your hand to touch an old man, Nor snip atthe words of an elder.

He moreover recommended respect and tolerancefor individuals with disabilities:

Do not jeer at a blind man nor tease a dwarf,Neither interfere with the condition of acripple. Do not taunt a man who is in thehand of God, Nor scowl at him if he errs.

ACKNOWLEDGMENTS

The cost of figures was supported by a grant fromthe Art and Drama Therapy Institute, Inc.

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FIG. 13. The sketchdepicts a dwarf, amanwith ahunchback, and aman withclubfeet who accompany a noble man in the after life.

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