/primary hypertrophic osteoarthropathy

primary hypertrophic osteoarthropathy

Rare Disease

MONDO:0016620

Also Known As

PDPPHOTouraine Solente Gole syndromeTouraine-Solente-Gole syndromehypertrophic osteoarthropathy, primaryhypertrophic osteoarthropathy, primary, autosomal recessive, type 1hypertropic osteoarthropathy, primaryidiopathic hypertrophic osteoarthropathypachydermoperiostosispachydermoperiostosis of nailpachydermoperiostosis of nail [ambiguous]pachydermoperiostosis syndromePHOAR1hypertrophic osteoarthropathy, primary, autosomal recessive, 1

Definition

A genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy.