cranioosteoarthropathy

cranioosteoarthropathy2016-11-25T12:53:55+00:00

cranioosteoarthropathy

GENETICS

Definition A form of osteoarthropathy (OMIM:259100) characterised by swelling of joints, digital clubbing, hyperhidrosis, delayed closure of fontanels, periostosis, and variable patent ductus arteriosus.

This condition may be clinically separated from hypertrophic osteoarthropathy—primary—autosomal recessive—1 (which is characterised by digital clubbing, periostosis, acroosteolysis, painful joint enlargement, and features of pachydermia including thickened facies and scalp, variably accompanied by delayed closure of the cranial sutures and congenital heart disease), in which pachydermia is a prominent feature. Given that hypertrophic osteoarthropathy—primary—autosomal recessive—1 and cranioosteoarthropathy are both caused by a defect in HPGD, separation of the two may not be a useful exercise. 

Molecular pathology Defects of HPGD, which encodes an alcohol dehydrogenase involved in prostaglandin metabolism and inactivation, cause cranioosteoarthropathy/hypertrophic osteoarthropathy—primary—autosomal recessive—1.

Synonyms CIO (included), COA (included), Currarino idiopathic osteoarthropathy (included), familial idiopathic osteoarthropathy of childhood (included)

References http://www.omim.org/entry/259100

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

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

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