Brachydactyly type A2
Name: |
Brachydactyly type A2
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Description: |
A rare, congenital limb malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the fifth finger. On radiographs, the middle phalanx of the index fingers often appear triangular and in severely affected cases, the index finger is curved radially. The lower limb phenotype is generally milder.
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ORPHAcode: |
93396
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Synonyms: |
Brachydactyly, Mohr-Wriedt type
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XREF(s): | |
Analyte(s): | |
Created: |
13 May 2019 - 01:02
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Changed: |
22 Jun 2023 - 16:14
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