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Ulnar polydactyly is also often part of a syndrome. [11] In patients with African ancestry ulnar polydactyly mostly occurs isolated, whereas the presentation in Caucasians is often associated with a syndrome, [12] though in a retrospective review, only 4 of 37 cases of ulnar polydactyly in Caucasians were syndromic. [13]
Ulnar dimelia, showing clenched position X-ray of 2-month-old female child with ulnar dimelia. Ulnar dimelia, also referred to simply as mirror hand, is a very rare congenital disorder characterized by the absence of the radial ray, duplication of the ulna, duplication of the carpal, metacarpal, and phalanx bones, and symmetric polydactyly.
Oligodactyly is therefore the opposite of polydactyly. [2] [3] Very rare, this medical condition usually has a genetic or familial cause. [3] [4] Oligodactyly is sometimes a sign or symptom of several syndromes including Poland syndrome and Weyer Ulnar Ray Syndrome. [5] It is a type of dysmelia.
Weyer's ulnar ray/oligodactyly syndrome is a rare multi-systemic genetic disorder which is characterized by ectrodactyly, ulnar, radial, or fibular ray deficit, and heart, single central incisor, splenic, and renal abnormalities.
Absent tibia-polydactyly-arachnoid cyst syndrome, also known as Holmes-Collins syndrome, is a very rare multi-systemic hereditary disorder which is characterized by facial dysmorphisms, [1] pre/post-axial polydactyly, toe syndactyly, missing/underdeveloped tibia bone, and the presence of a retrocerebellar arachnoid cyst.
The main characteristics of the syndrome are extra fingers and/or toes (polydactyly), with the skin between some fingers or toes potentially fused or "webbed" (cutaneous syndactyly), and a benign mass or lesion in the brain called a hypothalamic hamartoma. [5]
In combination with polydactyly Delta shaped extra phalanx. The triphalangeal thumb has a different appearance than normal thumbs. The appearance can differ widely; the thumb can be a longer thumb, it can be deviated in the radio-ulnar plane (clinodactyly), or thumb strength can be diminished.
Additional features include short stature, radio-ulnar synostosis, ectrodactyly and abnormalities of the carpals and metatarsals. [1] [2] Only 19 affected families worldwide have been recorded in medical literature. [3] It is associated with a heterozygous base pair substitution of A to G in position 404–406, located on intron 5 in the LMBR1 ...