Primary hypertrophic osteoarthropathy
Primary hypertrophic osteoarthropathy
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.
Also known as hypertrophic osteoarthropathy, primary, hypertrophic osteoarthropathy, primary, autosomal recessive, type 1, hypertropic osteoarthropathy, primary, idiopathic hypertrophic osteoarthropathy, pachydermoperiostosis, pachydermoperiostosis of nail [ambiguous], PDP, PHO, Touraine Solente Gole syndrome, Touraine-Solente-Gole syndrome — per MONDO