Brachydactyly type D

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Brachydactyly type D
Other namesClubbed thumb, [1] thumb head, [2] short thumb, [3] [1] potter's thumb, [1] royal thumb, murderer's thumb, [1] hammer thumb, stubbed thumb, stub thumb [4] [5]
Brachydaktylie Typ D einseitig.jpg
Unilateral brachydactyly type D in an adolescent female
X-ray of a normal thumb next to a thumb with Brachydactyly type D.jpg
X-ray of a regular thumb (left) and a thumb with brachydactyly type D (right) showing distal phalange brachyphalangy of said thumb.
Specialty Medical genetics

Brachydactyly type D, also known as murderer's thumb, [3] [1] stubbed thumb, [4] [5] spoon thumb, power thumb or short thumb, [4] [5] is a genetic trait recognised by a thumb being relatively short and round with an accompanying wider nail bed. The distal phalanx of such thumbs is approximately two-thirds the length of full-length thumbs. It is the most common type of shortness of digits (brachydactyly), affecting approximately 2% of the population. It is associated with the HOXD13 gene, located on chromosome 2q31.1. [6]

Contents

Signs and symptoms

Brachydactyly type D in both hands of an adolescent male. CaseOfTypeD.jpg
Brachydactyly type D in both hands of an adolescent male.

Brachydactyly type D is a skeletal condition that exhibits a “partial fusion or premature closing of the epiphysis with the distal phalanx of the thumb,” according to Goodman et alia (1965). [5] J.K. Breitenbecher (1923) found that the distal phalanges of short thumbs were one-half the length of full-length thumbs, while R.M. Stecher (1957) claimed that it is approximately two-thirds. The condition may be unilateral (affecting one thumb) or bilateral (affecting both). [5]

Genetics

Brachydactyly type D is a genetic trait. It exhibits autosomal dominance and is commonly developed or inherited independently of other hereditary traits. The condition is associated with the HOXD13 gene, which is central in digital formation and growth. [4]

Various other studies supported an autosomal dominant pattern with reduced penetrance. [7]

journal|last=Williams|first=Kimberly D.|date=2013-09-10|title=Non-Syndromic Brachydactyly Type D and Type E Mapped to 7p15 in Healthy Children and Adults from the Jirel Ethnic Group in Eastern Nepal|journal=American Journal of Human Biology|volume=25|issue=6|pages=743–750|doi=10.1002/ajhb.22441|pmc=3968259|pmid=24022874}}</ref>

Terminology

The condition is also called clubbed thumb or club thumb. [8] [9] American researcher R.A. Hefner used the terms "short thumb" and "brachymegalodactylism" in 1924, [3] and "short thumb" has continued to be used in a few other studies since then, including the study that defined Rubinstein–Taybi syndrome in 1963. [1] "Stub thumb" is the common term preferred by the online database Online Mendelian Inheritance in Man [4] and was first used in a 1965 study. [5] Stub thumbs have also been called murderer's thumb (allegedly among fortune tellers), [5] hammer thumb, bohemian thumb, and potter's thumb. [4]

Famous people with Brachydactyly type D

Well known individuals with this condition include Megan Fox, James Doohan, Tyler Joseph, Buster Keaton, Dan Avidan, Dianne Buswell, Cillian Sheridan, Leighton Meester, Jinnytty, Miles Teller, Sanaa Lathan, Angelica Rose Due Galang, and Kasia from Ifeye.

References

  1. 1 2 3 4 5 6 Rubinstein, Jack H. (1963-06-01). "Broad Thumbs and Toes and Facial Abnormalities: A Possible Mental Retardation Syndrome". American Journal of Diseases of Children. 105 (6): 588–608. doi:10.1001/archpedi.1963.02080040590010. ISSN   0002-922X. PMID   13983033.
  2. ↑ Macklin, Madge T. (December 1960). "Inheritance of Glioma: The Genetic Aspects of Cerebral Glioma and Its Relation to Status Dysraphicus". American Journal of Human Genetics. 12 (4 Pt 1): 448–449. ISSN   0002-9297. PMC   1932168 .
  3. 1 2 3 Hefner, R. A. (1924-10-01). "INHERITED ABNORMALITIES OF THE FINGERS II. Short Thumbs (Brachymegalodactylism)" . Journal of Heredity. 15 (10): 433–439. doi:10.1093/oxfordjournals.jhered.a102395. ISSN   0022-1503.
  4. 1 2 3 4 5 6 "OMIM Entry - # 113200 - BRACHYDACTYLY, TYPE D; BDD". omim.org. Retrieved 2019-08-17.
  5. 1 2 3 4 5 6 7 GOODMAN RM; ADAM A; SHEBA C (1965). "A Genetic Study of Stub Thumbs Among Various Ethnic Groups in Israel". Journal of Medical Genetics. 2 (2): 116–21. doi:10.1136/jmg.2.2.116. PMC   1012845 . PMID   14295653.
  6. ↑ Temtamy, Samia A; Aglan, Mona S (2008-06-13). "Brachydactyly". Orphanet Journal of Rare Diseases. 3: 15. doi: 10.1186/1750-1172-3-15 . ISSN   1750-1172. PMC   2441618 . PMID   18554391.
  7. ↑ Temtamy, Samia A; Aglan, Mona S (2008-06-13). "Brachydactyly". Orphanet Journal of Rare Diseases. 3: 15. doi: 10.1186/1750-1172-3-15 . ISSN   1750-1172. PMC   2441618 . PMID   18554391.
  8. ↑ "Google Ngram Viewer". books.google.com. Retrieved 2019-08-17.
  9. ↑ "Google Trends". Google Trends. Archived from the original on 2021-10-31. Retrieved 2019-08-17.
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