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,...
KeywordsTurner Syndrome Proximal Phalanx Distal Phalanx Autosomal Recessive Inheritance Middle Phalanx
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