Abnormal shortening of the distal part of the thumb
Medical condition
Brachydactyly type D
Other names
Clubbed thumb,[1] thumb head,[2] short thumb,[3][1] potter's thumb,[1] royal thumb, murderer's thumb,[1] hammer thumb, stubbed thumb,[4] stub thumb[5][6]
Unilateral brachydactyly type D in a 15-year-old female
X-ray of a normal thumb (left) and a thumb with brachydactyly type D (right) showing distal phalange brachyphalangy of said thumb.
Specialty
Medical genetics
Case of Brachydactyly type D in both hands of a 16 year old male.
Brachydactyly type D, also known as short thumb,[3][1]stub thumb,[5][6] or clubbed thumb,[5][6] is a genetic trait clinically recognised by a thumb being relatively short and round with an accompanying wider nail bed. The distal phalanx of affected thumbs is approximately two-thirds the length of full-length thumbs. It is the most common type of brachydactyly, or shortness of digits, affecting approximately 2–3% of the population, and is associated with the HOXD13 gene, located on chromosome 2q31.1.[7]
^ abcdeCite error: The named reference :1 was invoked but never defined (see the help page).
^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.
^ abCite error: The named reference :6 was invoked but never defined (see the help page).
^Learman, Yaffa; Katznelson, Mariassa Bat-Miriam; Bonné-Tamir, BatSheva; Engel, Joel; Hertz, Marjorie; Goodman, Richard M.; Opitz, John M. (1981). "Symphalangism with multiple anomalies of the hands and feet: A new genetic trait". American Journal of Medical Genetics. 10 (3): 245–55. doi:10.1002/ajmg.1320100308. ISSN 1096-8628. PMID 6272576.
^ abcCite error: The named reference :0 was invoked but never defined (see the help page).
^ abcCite error: The named reference :5 was invoked but never defined (see the help page).
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