• Harold Chen
Living 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.


Proximal Phalanx Distal Phalanx Autosomal Recessive Inheritance Distal Phalange Middle Phalanx 
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Copyright information

© Springer Science+Business Media New York 2016

Authors and Affiliations

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

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