Reference work entry

Brachydactyly, a general term for short digit, refers to disproportionately short fingers and toes and forms part of the group of limb malformations characterized by bone dysostosis. Dysostoses refer to abnormalities of individual bones, either in isolation or in combination with various abnormally formed bones. Dysostosis are usually static and arise during blastogenesis (first 8 weeks of embryonic life) versus osteochondrodysplasias that usually present at a later stage of development, typically affect the skeleton in general, and may continue to evolve as a result of continuous gene functioning throughout life.

Brachydactyly can occur either as an isolated malformation or as a part of a complex malformation syndrome. To date, many different forms of brachydactyly have been identified. Some forms also result in short stature. In isolated brachydactyly, subtle changes elsewhere may be present. Brachydactyly may also be accompanied by other hand malformations, such as syndactyly,...


Turner Syndrome Proximal Phalanx Distal Phalanx Autosomal Recessive Inheritance Middle Phalanx 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


  1. Armour, C. M., McCready, M. E., Baig, A., et al. (2002). A novel locus for brachydactyly type A1 on chromosome 5p13.3–p13.2. Journal of Medical Genetics, 39, 186–188.PubMedCrossRefGoogle Scholar
  2. Baraitser, M., & Burn, J. (1983). Recessively inherited brachydactyly type C. Journal of Medical Genetics, 20, 128–129.PubMedCrossRefGoogle Scholar
  3. Castriota-Scanderbeg, A., Garaci, F. G., & Beluffi, G. (2005). Angel-shaped phalanges in brachydactyly C: A case report, and speculation on pathogenesis. Pediatric Radiology, 35, 535–538.PubMedCrossRefGoogle Scholar
  4. David, T. J., & Burwood, R. L. (1972). The nature and inheritance of Kirner’s deformity. Journal of Medical Genetics, 9, 430.PubMedCrossRefGoogle Scholar
  5. Davies, S. J., & Hughes, H. E. (1993). Imprinting in Albright’s hereditary osteodystrophy. Journal of Medical Genetics, 30, 101–103.PubMedCrossRefGoogle Scholar
  6. Debeer, P., De Smet, L., & Fryns, J. P. (2001). Intrafamilial clinical variability in type C brachydactyly. Genetic Counseling, 12, 353–358.PubMedGoogle Scholar
  7. Everman, D. B., Bartels, C. F., Yang, Y., et al. (2002). The mutational spectrum of brachydactyly type C. American Journal of Medical Genetics, 112, 291–296.PubMedCrossRefGoogle Scholar
  8. Faiyaz-Ul-Haque, M., Ahmad, W., Zaidi, S. H., et al. (2002). Mutation in the cartilage-derived-morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (Du Pan syndrome). Clinical Genetics, 61, 454–458.PubMedCrossRefGoogle Scholar
  9. Gao, B., Guo, J., She, C., et al. (2001). Mutations in IHH, encoding Indian hedgehog, cause brachydactyly typeA-1. Nature Genetics, 28, 386–388.PubMedCrossRefGoogle Scholar
  10. Giordano, N., Gennari, L., Bruttini, M., et al. (2003). Mild brachydactyly type A1 maps to chromosome 2q35-q36 and is caused by a novel IHH mutation in a three generation family. Journal of Medical Genetics, 40, 132–135.PubMedCrossRefGoogle Scholar
  11. Gong, Y., Chitayat, D., Kerr, B., et al. (1999). Brachydactyly type B: Clinical description, genetic mapping to chromosome 9q, and evidence for a shared ancestral mutation. American Journal of Human Genetics, 64, 570–577.PubMedCrossRefGoogle Scholar
  12. Gurrieri, F., Kjaer, K. W., Sangiorgi, E., et al. (2002). Limb anomalies: Developmental and evolutionary aspects. American Journal of Medical Genetics, 115, 231–244.PubMedCrossRefGoogle Scholar
  13. Hall, C. M. (2002). International nosology and classification of constitutional disorders of bone (2001). American Journal of Medical Genetics, 113, 65–77.PubMedCrossRefGoogle Scholar
  14. Johnson, D., Kan, S. H., Oldridge, M., et al. (2003). Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E. American Journal of Human Genetics, 72, 984–997.PubMedCrossRefGoogle Scholar
  15. Kirkpatrick, T. J., Au, K. S., Mastrobattista, J. M., et al. (2003). Identification of a mutation in the Indian hedgehog (IHH) gene causing brachydactyly type A1 and evidence for a third locus [letter]. Journal of Medical Genetics, 40, 42–44.PubMedCrossRefGoogle Scholar
  16. Kjaer, K. W., Eiberg, H., Hansen, L., et al. (2006). A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2. Journal of Medical Genetics, 43, 225–231.PubMedCrossRefGoogle Scholar
  17. Lehmann, K., Seemann, P., Boergermann, J., et al. (2006). A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2. European Journal of Human Genetics, 14, 1248–1254.PubMedCrossRefGoogle Scholar
  18. Lehmann, K., Seemann, P., Silan, F., et al. (2007). A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN. American Journal of Human Genetics, 81, 388–396.PubMedCrossRefGoogle Scholar
  19. Majewski, F., Tinschert, S., Grzescik, K. H., et al. (2003). Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. Proceedings of the National Academy of Sciences of the United States of America, 100, 12277–12282.PubMedCrossRefGoogle Scholar
  20. McCready, M. E., Sweeney, E., Fryer, A. E., et al. (2002). A novel mutation in the IHH gene causes brachydactyly type A1: A 95-year-old mystery resolved. Human Genetics, 111, 42–44.CrossRefGoogle Scholar
  21. Ploger, F., Seemann, P., Schmidt-von Kegler, M., et al. (2008). Brachydactyly type A2 associated with a defect in proGDF5 processing. Human Molecular Genetics, 17, 1222–1233.PubMedCrossRefGoogle Scholar
  22. Polinkovsky, A., Robin, N. H., Thomas, J. T., et al. (1997). Mutations in CDMP1 cause autosomal dominant brachydactyly type C [Letter]. Nature Genetics, 17, 18–19.PubMedCrossRefGoogle Scholar
  23. Ray, A. K., & Haldane, J. B. S. (1965). The genetics of a common Indian digital abnormality. Proceedings of the National Academy of Sciences of the United States of America, 53, 1050–1053.PubMedCrossRefGoogle Scholar
  24. Roelfsema, J. H., & Peters, D. J. (2007). Rubinstein-Taybi syndrome: Clinical and molecular overview. Expert Reviews in Molecular Medicine, 20, 1–16.Google Scholar
  25. Sammar, M., Stickler, S., Schwabe, G. C., et al. (2004). Modulation of GDF5/BRI-b signaling through interaction with the tyrosine kinase receptor Ror2. Genes to Cells, 9, 1227–1238.PubMedCrossRefGoogle Scholar
  26. Schwabe, G. C., Tinschert, S., Buschow, C., et al. (2000). Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B. American Journal of Human Genetics, 67, 822–831.PubMedCrossRefGoogle Scholar
  27. Schwabe, G. C., Turkmen, S., Leschik, G., et al. (2004). Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1. American Journal of Medical Genetics, 124(4), 356–363.CrossRefGoogle Scholar
  28. Seemann, P., Schwappacher, R., Kjaer, K. W., et al. (2005). Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2. The Journal of Clinical Investigation, 115, 2373–2381.PubMedCrossRefGoogle Scholar
  29. Stickler, S., van Wijk, Verhev., Witte, F., et al. (2006). Cloning and expression pattern of chicken Ror2 and functional characterization of truncating mutations in Brachydactyly type B and Robinow syndrome. Developmental Dynamics, 235, 3456–3465.CrossRefGoogle Scholar
  30. Sugarman, G. I., Hager, D., & Kulik, W. J. (1974). A new syndrome of brachydactyly of the hands and feet with duplication of the first toes. Birth Defects-Original Article Series, X(5), 1–8.Google Scholar
  31. Superti-Furga, A., & Unger, S. (2006). Nosology and classification of genetic skeletal disorders: 2006 revision. American Journal of Medical Genetics. Part A, 143A, 1–18. 2007.CrossRefGoogle Scholar
  32. Superti-Furga, A., & Unger, S. (2007). Nosology group of the international skeletal dysplasia society: Nosology and classification of genetic skeletal disorders: 2006 revision. American Journal of Medical Genetics. Part A, 143A, 1–18.CrossRefGoogle Scholar
  33. Temtamy, S. A., & Aglan, M. S. (2008). Brachydactyly (review). Orphanet Journal of Rare Diseases, 3, 15–30.PubMedCrossRefGoogle Scholar
  34. Temtamy, S. A., & McKusick, V. A. (1978). The genetics of hand malformations. New York: Alan R Liss.Google Scholar
  35. Thomas, J. T., Lin, K., Nandedkar, M., et al. (1996). A human chondrodysplasia due to a mutation in a TGF-b superfamily member. Nature Genetics, 12, 315–317.PubMedCrossRefGoogle Scholar
  36. Yang, X., She, C., Guo, J., et al. (2000). A locus for brachydactyly type A-1 maps to chromosome 2q35-q36. American Journal of Human Genetics, 66, 892–903.PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC 2012

Personalised recommendations