Brachydactyly type D
Abnormal shortening of the distal part of the thumb / From Wikipedia, the free encyclopedia
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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]
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Brachydactyly type D | |
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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 |
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