Table of ContentsView AllTable of ContentsCausesPrevalenceCoping
Table of ContentsView All
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Table of Contents
Causes
Prevalence
Coping
People with “toe thumbs” have thumbs with a shorter and wider appearance than is typical, resembling the structure of the toes. Medically known asbrachydactylytype D, toe thumbs are a genetic variation that affects approximately 2% of the population.The term “brachydactyly” is Greek for “short digits.”
This article will review the cause of toe thumbs, how rare it is, and if treatment is required for this condition.
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Cause of Genetic Toe Thumbs
The genetic cause of toe thumbs can be attributed to an autosomal dominant inheritance pattern. This means that a person only needs to inherit the genetic variant from one parent to develop toe thumbs.In other words, if you have a family member with toe thumbs, the likelihood of others inheriting the condition is higher.
The specific gene associated with this condition is still being investigated, but research suggests that it may involve alterations in the HOXD13 gene or other related genes involved in limb development.Mutations or changes in these genes can disrupt the typical growth and development of the thumb bones, leading to the characteristic appearance of toe thumbs.
How Many People Have Toe Thumbs?
Brachydactyly type D is the most common form of brachydactyly involving shortened digits. Approximately 2% to 3% of the general population has this condition.
It is important to note that the occurrence of brachydactyly type D varies across different populations, with prevalence rates ranging from 0.41% to 4.0%. A higher prevalence of cases has been documented among Israeli Arabs and within the Japanese population.
Learning to Live With Toe Thumbs
It’s important to note that having toe thumbs is typically harmless and does not cause any functional limitations or health issues. It is simply a physical variation in the appearance of the thumbs that’s based on an inheritance pattern and is considered harmless.
Plastic surgery interventions may be considered solely when the condition significantly impairs hand function or if cosmetic concerns exist.However, it is important to note that surgical intervention is typically unnecessary for most cases of brachydactyly, especially type D affecting the thumbs.
In a study conducted between 2018 and 2021, aesthetic surgical intervention was performed on 163 thumbs of 95 patients with brachydactyly type D. The findings revealed that the function of the thumb was not significantly impacted due to the procedure.
Summary
Treatment for toe thumbs, such as plastic surgery, is typically unnecessary unless hand function is significantly impaired or there are cosmetic concerns. The surgical intervention aims to correct short nail deformities and has shown positive results in patient satisfaction without compromising thumb function.
4 Sources
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Superti-Furga A, Unger S.Nosology and classification of genetic skeletal disorders: 2006 revision.Am J Med Genet A.2007;143A:1–18. doi: 10.1002/ajmg.a.31483.
Temtamy, S.A., Aglan, M.S.Brachydactyly.Orphanet J Rare Dis3, 15 (2008). doi: 10.1186/1750-1172-3-15
Johnson, D., Kan, S., Oldridge, M., Trembath, R. C., Roche, P., Esnouf, R. M., Giele, H., Wilkie, A. O. M.Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E. Am. J. Hum. Genet. 72: 984-997, 2003.
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