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Brachydactyly Type-C
DefinitionDefinition of Brachydactyly Type-C Brachydactyly type C is an autosomal dominant disorder with markedly variable penetrance. A patient with limited gene expression has shortening limited to the middle phalanges and the first metacarpal and an elongation of the radial side of the base of the second proximal phalanx. When completely expressed the characteristic radiographic findings are shortening of all the metacarpals, greatest in the thumb, followed by the little, ring, middle, and index fingers; brachymesophalangy (shortening of the middle phalanges); shortening of the proximal phalanges of the index and middle fingers, with the proximal phalanges of the ring and small fingers of normal length; elongation of the radial side of the base of the second proximal phalanx resulting in a trapezoidal shaped epiphysis; ulnar deviation at the second and third metacarpophalangeal joints; and hypersegmentation (extra phalanx) of the index and middle fingers. SymptomsSymptoms of Brachydactyly Type-C The list of signs and symptoms for Brachydactyly type C listed below:
DiagnosisDiagnosis of Brachydactyly Type-C The phrase "signs of Brachydactyly, Type-C" should, strictly speaking, refer only to those signs and symptoms of Brachydactyly, Type-C that are not readily apparent to the patient. Find Diseases Alphabetically
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