Living reference work entry


Marco Fraccaro first described achondrogenesis in 1952 (Fraccardo 1952). He used the term to describe a stillborn female with severe micromelia and marked histological cartilage changes. The term was later used to characterize the most severe forms of chondrodysplasia in humans, which were invariably lethal before or shortly after birth. By the 1970s, researchers concluded that achondrogenesis was a heterogeneous group of chondrodysplasias lethal to neonates; achondrogeneses type I (Fraccaro-Houston-Harris type) and type II (Langer-Saldino type) were distinguished on the basis of radiological and histological criteria.


  1. Bonafé, L., Mittaz-Crettol, L., & Ballhausen, D., et al. (2013). Achondrogenesis type 1B. GeneReviews. Updated 14 Nov 2013. Available at:
  2. Borochowitz, Z., Ornoy, A., Lachman, R., et al. (1986). Achondrogenesis II-hypochondrogenesis: Variability versus heterogeneity. American Journal of Medical Genetics, 24, 273–288.PubMedCrossRefGoogle Scholar
  3. Borochowitz, Z., Lachman, R., Adomian, G. E., et al. (1988). Achondrogenesis type I: Delineation of further heterogeneity and identification of two distinct subgroups. The Journal of Pediatrics, 112, 23–31.PubMedCrossRefGoogle Scholar
  4. Chen, H. (2013). Achondrogenesis. eMedicine from WebMD. Updated 26 June 2013. Available at:
  5. Chen, H. (2015). Skeletal dysplasia. eMedicine from WebMD. Updated 2 Mar 2015. Available at:
  6. Chen, H., Liu, C. T., & Yang, S. S. (1981). Achondrogenesis: A review with special consideration of achondrogenesis type II (Langer-Saldino). American Journal of Medical Genetics, 10, 379–394.PubMedCrossRefGoogle Scholar
  7. Faivre, L., Le Merrer, M., Douvier, S., et al. (2004). Recurrence of achondrogenesis type II within the same family: Evidence for germline mosaicism. American Journal of Medical Genetics Part A Early View, 126, 308–312.CrossRefGoogle Scholar
  8. Forzano, F., Lituania, M., Viassolo, V., et al. (2007). A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and “patchy” expression in the mosaic father. American Journal of Medical Genetics. Part A, 143A, 2815–2820.PubMedCrossRefGoogle Scholar
  9. Fraccardo, M. (1952). Contributo allo studio delle malattie del mesenchima osteopoietico: l Achondrogenesi. Folia Hered Path, 1, 190–208.Google Scholar
  10. Godfrey, M., & Hollister, D. W. (1988). Type II achondrogenesis-hypochondrogenesis: Identification of abnormal type II collagen. American Journal of Human Genetics, 43, 904–913.PubMedPubMedCentralGoogle Scholar
  11. Hastbacka, J., de la Chapelle, A., Mahtani, M. M., Clines, G., Reeve-Daly, M. P., Daly, M., Hamilton, B. A., Kusumi, K., Trivedi, B., Weaver, A., et al. (1994). The diastrophic dysplasia gene encodes a novel sulfate transporter: Positional cloning by fine-structure linkage disequilibrium mapping. Cell, 78, 1073–1087.PubMedCrossRefGoogle Scholar
  12. Hastbacka, J., Superti-Furga, A., Wilcox, W. R., et al. (1996). Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): Evidence for a phenotypic series involving three chondrodysplasias. American Journal of Human Genetics, 58, 255–262.PubMedPubMedCentralGoogle Scholar
  13. Horton, W. A., Machado, M. A., Chou, J. W., et al. (1987). Achondrogenesis type II, abnormalities of extracellular matrix. Pediatric Research, 22, 324–329.PubMedCrossRefGoogle Scholar
  14. Körkkö, J., Cohn, D. H., Ala-Kokko, L., et al. (2000). Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis. American Journal of Medical Genetics, 92, 95–100.PubMedCrossRefGoogle Scholar
  15. Meizner, I., & Barnhard, Y. (1995). Achondrogenesis type I diagnosed by transvaginal ultrasonography at 13 weeks’ gestation. American Journal of Obstetrics and Gynecology, 173, 1620–1622.PubMedCrossRefGoogle Scholar
  16. Molz, G., & Spycher, M. A. (1980). Achondrogenesis type I: Light and electron-microscopic studies. European Journal of Pediatrics, 134, 69–74.PubMedCrossRefGoogle Scholar
  17. Ornoy, A., Sekeles, E., Smith, P., et al. (1976). Achondrogenesis type I in three sibling fetuses. Scanning and transmission electron microscopic studies. American Journal of Pathology, 82, 71–84.PubMedPubMedCentralGoogle Scholar
  18. Smits, P., Bolton, A. D., Funaari, V., et al. (2010). Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210. New England Journal of Medicine, 362, 206–216.PubMedPubMedCentralCrossRefGoogle Scholar
  19. Soothill, P. W., Vuthiwong, C., & Rees, H. (1993). Achondrogenesis type 2 diagnosed by transvaginal ultrasound at 12 weeks’ gestation. Prenatal Diagnosis, 13, 523–528.PubMedCrossRefGoogle Scholar
  20. Superti-Furga, A. (1996). Achondrogenesis type 1B. Journal of Medical Genetics, 33, 957–961.PubMedPubMedCentralCrossRefGoogle Scholar
  21. Superti-Furga, A., Hästbacka, J., Wilcox, W. R., et al. (1996a). Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. Nature Genetics, 12, 100–102.PubMedCrossRefGoogle Scholar
  22. Superti-Furga, A., Rossi, A., Steinmann, B., et al. (1996b). A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: Genotype/phenotype correlations. American Journal of Medical Genetics, 63, 144–147.PubMedCrossRefGoogle Scholar
  23. Superti-Furga, A., Neumann, L., Riebel, T., et al. (1999). Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation. Journal of Medical Genetics, 36, 621–624.PubMedPubMedCentralGoogle Scholar
  24. Superti-Furga, A., Bonafe, L., & Rimoin, D. L. (2001). Molecular-pathogenetic classification of genetic disorders of the skeleton. American Journal of Medical Genetics, 106, 282–293.PubMedCrossRefGoogle Scholar
  25. Taner, M. Z., Kurdoglu, M., Taskiran, C., et al. (2008). Prenatal diagnosis of achondrogenesis type I: A case report. Cases Journal, 1, 406–410.PubMedPubMedCentralCrossRefGoogle Scholar
  26. Tongsong, T., Srisomboon, J., & Sudasna, J. (1995). Prenatal diagnosis of Langer-Saldino achondrogenesis. Journal of Clinical Ultrasound, 23, 56–58.PubMedCrossRefGoogle Scholar
  27. Yang, S. S., & Bernstein, J. (1975). Letter: Proposed readjustment of eponyms for achondrogenesis. The Journal of Pediatrics, 87, 333–334.PubMedCrossRefGoogle Scholar
  28. Yang, S. S., & Bernstein, J. (1977). Achondrogenesis type I. Archives of Disease in Childhood, 52, 253–254.PubMedPubMedCentralCrossRefGoogle Scholar
  29. Yang, S. S., & Gilbert-Barnes, E. (1997). Skeletal system. In E. Gilbert-Barness (Ed.), Potter’s pathology of the fetus and infant (pp. 1423–1478). St Louis: Mosby.Google Scholar
  30. Yang, S. S., Brough, A. J., Garewal, G. S., et al. (1974). Two types of heritable lethal achondrogenesis. The Journal of Pediatrics, 85, 796–801.PubMedCrossRefGoogle Scholar
  31. Yang, S. S., Heidelberger, K. P., & Bernstein, J. (1976a). Intracytoplasmic inclusion bodies in the chondrocytes of type I lethal achondrogenesis. Human Pathology, 7, 667–673.PubMedCrossRefGoogle Scholar
  32. Yang, S.-S., Heidelberger, K. P., Brough, A. J., et al. (1976b). Lethal short-limbed chondrodysplasia in early infancy. Perspectives in Pediatric Pathology, 3, 1–40.PubMedGoogle Scholar

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© Springer Science+Business Media New York 2015

Authors and Affiliations

  1. 1.Medical Genetics, Shriners Hospitals for ChildrenShreveportUSA
  2. 2.Perinatal and Clinical Genetics, Department of PediatricsLSU Health Sciences CenterShreveportUSA

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