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,...
This is a preview of subscription content, log in via an institution.
References
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.
Baraitser, M., & Burn, J. (1983). Recessively inherited brachydactyly type C. Journal of Medical Genetics, 20, 128–129.
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.
David, T. J., & Burwood, R. L. (1972). The nature and inheritance of Kirner’s deformity. Journal of Medical Genetics, 9, 430.
Davies, S. J., & Hughes, H. E. (1993). Imprinting in Albright’s hereditary osteodystrophy. Journal of Medical Genetics, 30, 101–103.
Debeer, P., De Smet, L., & Fryns, J. P. (2001). Intrafamilial clinical variability in type C brachydactyly. Genetic Counseling, 12, 353–358.
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.
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.
Gao, B., Guo, J., She, C., et al. (2001). Mutations in IHH, encoding Indian hedgehog, cause brachydactyly typeA-1. Nature Genetics, 28, 386–388.
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.
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.
Gurrieri, F., Kjaer, K. W., Sangiorgi, E., et al. (2002). Limb anomalies: Developmental and evolutionary aspects. American Journal of Medical Genetics, 115, 231–244.
Hall, C. M. (2002). International nosology and classification of constitutional disorders of bone (2001). American Journal of Medical Genetics, 113, 65–77.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
Roelfsema, J. H., & Peters, D. J. (2007). Rubinstein-Taybi syndrome: Clinical and molecular overview. Expert Reviews in Molecular Medicine, 20, 1–16.
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.
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.
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.
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.
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.
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.
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.
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.
Temtamy, S. A., & Aglan, M. S. (2008). Brachydactyly (review). Orphanet Journal of Rare Diseases, 3, 15–30.
Temtamy, S. A., & McKusick, V. A. (1978). The genetics of hand malformations. New York: Alan R Liss.
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.
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.
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2012 Springer Science+Business Media, LLC
About this entry
Cite this entry
(2012). Brachydactyly. In: Chen, H. (eds) Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-1037-9_28
Download citation
DOI: https://doi.org/10.1007/978-1-4614-1037-9_28
Publisher Name: Springer, New York, NY
Print ISBN: 978-1-4614-1036-2
Online ISBN: 978-1-4614-1037-9
eBook Packages: Biomedical and Life SciencesReference Module Biomedical and Life Sciences