, Volume 89, Issue 1–3, pp 307–315 | Cite as

Minor anomalies: Diagnostic clues to aberrant human morphogenesis

  • H. Eugene Hoyme


Assessment of the degree of fluctuating asymmetry has been used in a variety of organisms as a measure of genetic and/or environmental stresses encountered during embryonic development. However, fluctuating asymmetry has not been widely used in humans in the diagnosis of congenital anomalies. Rather, assessment of patterns of minor anomalies has been utilized to infer the degree of embryonic developmental instability accompanying either genetic or teratogenic insults.

A minor anomaly is a structural feature seen in less than 4% of the general population, which is of no cosmetic or functional significance to the affected individual. Minor anomalies may or may not have functional or diagnostic significance when taken in the context of the entire child. In dysmorphology, minor anomalies have been useful in three distinct ways. First, some minor anomalies have been external markers of specific occult major anomalies. In addition, the vast majority of malformation syndromes in clinical genetics are recognizable as patterns of minor anomalies. Finally, although 15% of normal newborns have one or more minor anomalies, the finding of three or more minor anomalies is distinctly unusual. The risk of having a major occult abnormality increases proportionately with the number of minor defects present, with three or more minor anomalies signalling a 20% risk of a major occult structural defect.

In summary, just as fluctuating asymmetry may be a marker of abnormal environmental or genetic stress in the developing embryo, the presence of minor anomalies can be utilized to assess developmental instability.

Key words

minor anomalies dysmorphology fluctuating asymmetry birth defects 


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  1. Aase, J. M., 1981. The dysmorphology detective. Ped Annals 20: 38–43.Google Scholar
  2. Alexander, G. L. & R. M. Norman, 1960. The Sturge-Weber syndrome. Wright and Son, Bristol.Google Scholar
  3. Baker, R. S., P. A. Ross & R. J. Baumann, 1987. Neurologic complications of the epidermal nevus syndrome. Arch. Neurol. 44: 227–232.PubMedGoogle Scholar
  4. Carey, J. C., 1993. Auricular tags, pp. 214–216 in Human malformations and related anomalies, Vol. II. edited by R. E. Stevenson, J. G. Hall and R. M. Goodman. Oxford Univ. Press, New York.Google Scholar
  5. Grebe, T. A., M. E. Rimsza, R. C. Hansen, S. F. Richter & H. E. Hoyme, 1992. Expanding the clinical spectrum of epidermal nevus syndrome: two cases with new findings and literature review. Proc. Greenwood Genet. Center 11: 109.Google Scholar
  6. Hall, D. E., M. D. Udvarhelyi & J. Altman, 1981. Lumbosacral skin lesions as markers of occult spinal dysraphism. J.A.M.A. 246: 2606–2608.PubMedCrossRefGoogle Scholar
  7. Hall, J. G., 1983. Part I. Amyoplasia: A common, sporadic condition with congenital contractures. Am. J. Med. Genet. 15: 571–590.CrossRefPubMedGoogle Scholar
  8. Higginbottom, M. C., K. L. Jones & H. E. James, 1980. Aplasia cutis congenita: A cutaneous marker of occult spinal dysraphism. J. Pediat. 96: 687–689.CrossRefPubMedGoogle Scholar
  9. Hoyme, H. E., 1987. Minor malformations: Significant or insignificant? Ann. J. Dis. Child. 141: 947.Google Scholar
  10. Jones, K. L., 1988. Smith's Recognizable Patterns of Human Malformation, 4th ed. Philadelphia, W. B. Saunders Co., pp. 662–681.Google Scholar
  11. Leamy, L., 1986. Directional selection and developmental stability: Evidence from fluctuating asymmetry of dental characters in mice. Heredity 57: 381–388.PubMedGoogle Scholar
  12. Leppig, K. A., M. M. Werler, C. I. Cannet al., 1987. Predictive value of minor anomalies. I. Association with major malformations. J. Pediatr. 110: 531–537.CrossRefPubMedGoogle Scholar
  13. Louw, J. H., 1966. Jejunoileal atresia and stenosis. J. Pediatr. Surg. 1: 8–23.CrossRefGoogle Scholar
  14. Marden, P. M., D. W. Smith & M. J. McDonald, 1964. Congenital anomalies in the newborn infant, including minor variations. J. Pediatr. 64: 357–371.CrossRefPubMedGoogle Scholar
  15. Markow, T. A. & J. Wandler, 1986. Fluctuating dermatoglyphic asymmetry and the genetics of liability to schizophrenia. Psych. Res. 19: 323–328.CrossRefGoogle Scholar
  16. Mehes, K., 1983. Minor malformations in the neonate. Akademiai Kiado, Budapest.Google Scholar
  17. Parsons, P. A. & W. L. Howe, 1967. Morphogenetic homeostasis in mice. Aust. J. Biol. Sci. 20: 777–784.PubMedGoogle Scholar
  18. Parsons, P. A., 1990. Fluctuating asymmetry: An epigenetic measure of stress. Biol. Rev. 65: 131–145.PubMedGoogle Scholar
  19. Pinsky, L., 1985. Informative morphogenetic variants: Minor cogenital anomalies revisited, pp. 135–170. Issues and Reviews in Teratology, edited by H. Kalter. Plenum Press, New York.Google Scholar
  20. Popich, G. A. & D. W. Smith, 1970. The genesis and significance of digital and palmar hand creases: Preliminary report. J. Pediatr. 77: 1017–1023.CrossRefPubMedGoogle Scholar
  21. Ribnik, L. R. & H. E. Hoyme, 1989. Natal teeth in Native Americans. Am. J. Human. Genet. 45: A59.Google Scholar
  22. Seaver, L. H., L. Joffe, R. P. Spark, B. L. Smith & H. E. Hoyme, 1993. Congenital scalp defects and vitreoretinal degeneration: Redefining the Knobloch syndrome. Am. J. Med. Genet. 46: 203–208.CrossRefPubMedGoogle Scholar
  23. Siegel, M. I., W. J. Doyle & C. Kelley, 1977. Heat stress, fluctuating asymmetry and prenatal selection in the laboratory rat. Am. J. Phys. Anthropol. 46: 121–126.CrossRefPubMedGoogle Scholar
  24. Smith, D. W. & K. E. Bostian, 1964. Congenital anomalies associated with idiopathic mental retardation. J. Pediatr. 65: 189–196.CrossRefPubMedGoogle Scholar
  25. Smith, D. W. & B. T. Gong, 1973. Scalp hair patterning as a clue to early fetal brain development. J. Pediatr. 83: 374–380.CrossRefPubMedGoogle Scholar
  26. Spranger, J., K. Benirschke, J. G. Hallet al., 1982. Errors of morphogenesis: Concepts and terms. J. Pediatr. 100: 160–165.CrossRefPubMedGoogle Scholar
  27. Stevenson, R. E. & J. G. Hall, 1993. Terminology, pp. 21-30 in J. G. Hall & R. M. Goodman eds. Human malformations and related anomalies, Vol. I, edited by R. E. Stevenson, J. G. Hall and R. M. Goodman. Oxford Univ. Press, New York.Google Scholar
  28. Thoday, J. M., 1958. Homeostasis in a selection experiment. Heredity 12: 401–415.Google Scholar

Copyright information

© Kluwer Academic Publishers 1993

Authors and Affiliations

  • H. Eugene Hoyme
    • 1
  1. 1.Department of Pediatrics, Steele Memorial Children's Research CenterUniversity of Arizona College of MedicineTucsonUSA

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