Anthropometric evidence of brachydactyly type D in a family with unusual thumbs

Laura Ramona Rozite, Silvija Umbraško, Erika Nagle, Ilva Duļevska, Zeltīte Cēderštrēma

Research output: Contribution to conferenceAbstractpeer-review


Background and Aim. Brachydactyly type D affects the distal phalanx of the thumb, making it shorter and its base wider than usual. The trait occurs isolated and is considered autosomal dominant with variable expressivity, incomplete penetrance and a prevalence of 0.41-4.0%. It is not yet clear which genes cause this trait, but the TWIST, HOXA1-A13 cluster and HOXD13 are considered strong candidates. Thumbs with brachydactyly are also less prone to joint wear. The aim of this
study was to measure the parameters of thumbs in one family members with brachydactyly and control group respondents who do not have the trait.
Material and Methods. With a caliper and a measuring tape, the thumbs’ length, width, and girth were measured for 3 family members with brachydactyly and a control group of 21 men and 21 women. Other people with brachydactyly were approached through the internet to measure their thumbs’ parameters.
Results.Daughter R. (19 years old) and her father A. (57 years old) has brachydactyly in their left hand. The father’s sister’s daughter D. (26 years old) has the trait in both hands.The length of the distal phalanges of left and right thumbs for daughter R. are 22 and 32mm, for father A. 33 and 43mm and for cousin D. 24 and 22mm respectively. In the control group, the average lengths of distalphalanges of thumbs for women are 29.7±0.1mm for the right, 29.0±0.1mm for the left thumb and for men - 31.2±0.2mm for the right and 31.8±0.1mm for the left thumb. Conclusions. Anthropometric measurements confirm brachydactyly type D in this family. For the control group, we observed no significant difference between the right and left thumb parameters, but compared to the family members, the difference in the measurements is up to 10mm.


Congress22nd Congress of European Anthropology Association (EAA), 15th Congress of International Society for the Study of Human Growth and Clinical Auxology (ISGA), 5th International Conference of Evolutionary Medicine (ICEM)
Internet address


  • brachydactyly type D
  • thumb measurements
  • family
  • genes

Field of Science*

  • 3.1 Basic medicine

Publication Type*

  • 3.4. Other publications in conference proceedings (including local)


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