digital clubbing—isolated congenital

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digital clubbing—isolated congenital2016-11-29T00:38:22+00:00

digital clubbing—isolated congenital 

GENETICS

Definition A rare genodermatosis (OMIM:119900) characterised by enlargement of the nail plate and terminal segments of the fingers and toes due to connective tissue proliferation between the nail matrix and distal phalanx. It is usually symmetrical and bilateral, less often, unilateral. In digital clubbing, the distal end of the nail matrix is usually higher than the proximal end. Whilst the nail plate is complete, its dimensions and diameter are abnormal with varying involvement of the digits; some digits are spared, but the thumbs are almost always involved. 

Synonyms Acropachy—hereditary, clubbing of digits—congenital, isolated congenital nail clubbing, nail clubbing—isolated congenital 

References http://www.genecards.org/cgi-bin/carddisp.pl?gene=HPGD

http://www.uniprot.org/uniprot/P15428

http://www.omim.org/entry/119900 

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