Advertisement

Genetic Syndromes

  • Julie D. Kaplan
  • Carol L. Greene
Living reference work entry

Abstract

Congenital upper extremity abnormalities are commonly associated with genetic syndromes; accurate identification and diagnosis of a syndrome may dramatically impact medical management for the child and recurrence risk for the family. In this chapter, commonly used genetic terminology and the utility of genetic testing versus referral to a clinical geneticist is reviewed. In addition, common genetic syndromes will be reviewed for specific types of limb abnormalities. After reading this chapter, the orthopedic surgeon should have a better understanding of when to recognize a possible genetic syndrome in a child with an upper extremity abnormality in addition to when to refer to genetics for testing, diagnosis, and counseling.

Keywords

Syndrome Dysmorphic Malformation Deformation Disruption Syndactyly Synostosis Polydactyly Brachydactyly Oligodactyly Overgrowth Macrodactyly Arthrogryposis Madelung Hyperextensibility 

References

  1. Bamshad M, Van Heest A, Pleasure D. Arthrogryposis: a review and update. J Bone Joint Surg Am. 2009;91 Suppl 4:40–6.PubMedCentralPubMedCrossRefGoogle Scholar
  2. Dugan SL. Overview of genetic testing. In: Saal RA, editor. Medical genetics in pediatric practice. Elk Grove Village: American Academy of Pediatrics; 2013. p. 235–52.Google Scholar
  3. Frazier TM. A note on race-specific congenital malformation rates. Am J Obstet Gynecol. 1960;80:184–5.PubMedGoogle Scholar
  4. OMIM: Online mendelian inheritance in man. http://www.ncbi.nlm.nih.gov/Omim/searchomim.html
  5. Schwabe GC, Mundlos S. Genetics of congenital hand anomalies. Handchir Mikrochir Plast Chir. 2004;36(2–3):85–97.PubMedGoogle Scholar
  6. Stevenson RE, Hall JG. Human malformations and related anomalies. 2nd ed. Oxford: Oxford University Press; 2006.Google Scholar
  7. Temtamy SA, McKusick VA. The genetics of hand malformations. New York: Alan R Liss; 1978.Google Scholar
  8. Thompson and Thompson. Genetics in medicine. 8th ed. Philadelphia: Saunders; 2007.Google Scholar

Copyright information

© Springer Science+Business Media New York 2014

Authors and Affiliations

  1. 1.University of Maryland School of MedicineBaltimoreUSA

Personalised recommendations