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primary hypertrophic osteoarthropathy (pachydermoperiostosis)
Genetics:
- autosomal recessive
- associated with defects in HPGD
Clinical manifestations:
- digital clubbing
- osteoarthropathy
- variable features of pachydermia,
- delayed closure of the fontanels
- congenital heart disease
- usually has a chronic course
Complications:
- some patients eventually develop diseases (patent ductus arteriosus, Crohn disease, myelofibrosis) known to be causes of secondary hypertrophic osteoarthropathy many years after the onset of the osteoarthropathy
General
hypertrophic osteoarthropathy
genetic disease of bone/skeletal system
Database Correlations
OMIM 259100
References
- OMIM :accession 259100
- eMedicine: Hypertrophic Osteoarthropathy
http://emedicine.medscape.com/article/333735-overview