History of Genetic Disorders & Birth Defects

Compiled by: Dr. Vajira H.W. Dissanayake, Feb 1997

Guardstones of
Ancient Sri Lanka Showing
Achondroplastic
Dwarfs

Evidence to show that Birth Defects were known to ancient people is found from all around the world. A catalogue of monstrosities of human infants dating back to 2000 BC, found within the ancient ruins of Babylon, is one of the earliest methodical recordings of Birth Defects so far found. 1 Status of achondroplastic dwarfs has been found in very ancient Egyptian tombs. Rock drawings of a pre-historic ear in some Australian caves depict various kinds of monstrosities. 2 Ancient Peruvian pottery also show harelip and congenital amputation of the arm. 3

In Sri Lanka archeological finds among the ruins of the ancient capital Anuradhapura dating back to 4th century AD show achondroplastic dwarfs carved into in the Guardstones of Buddhist Temples.4 (look at the foot of the Guardstones for the two dwarfs on either side of the prince. Click on the images to see the full size image)

Although the outwardly obvious Birth Defects were thus identified from time in memorial evidence to support the genetic basis of disease had to wait till science was more developed. In his theme address to the First International Conference on Congenital Malformations on July 18th 1960, George W Corner stated; "at least one type of congenital malformations in human beings - Mongolism- can now be definitely ascribed to a genetic mechanism." We have certainly come a long way since then.5


References:

  1. Ballantyne J.W. (1892) Trans. Edin. Obst. Soc XVII 99. Cited by Corea S.M.X., Epidemiological Study of Congenital Malformations In Sri Lanka, Colombo: The Author 1982.

  2. Ballantyne J.W. (1894) Teratalogia 1-127. Cited by Corea S.M.X., Epidemiological Study of Congenital Malformations in Sri Lanka, Colombo: The Author 1982.

  3. Cited By George W Corner In His Theme Speech At The First International Congress On Congenital Malformations. (see 5 below)

  4. Godakumbura C.E. Guardstone, Colombo, Archeological Department, Ceylon. 1969.

  5. First International Conference on Congenital Malformations - Papers and Discussions Presented at the First International Conference on Congenital Malformations, London, England, July 18-22, 1960: Available at the Sri Lanka Medical Library.

Anuradhapura
Near Jetavana Stupa in
Anuradhapura
4th Century A.D
From Water Gardens
At Sigiriya
5th Century AD
From Alahana Pirivena,
Pollonnaruwa the 12th
Centry AD University of Sri Lanka