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Первинна гіпертрофічна остеоартропатія

ORPHA:248095· Primary hypertrophic osteoarthropathy

Визначення(English summary)

Primary hypertrophic osteoarthropathy (PHO) is 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 (see these terms).

Поширеність
Unknown
Успадкування
Autosomal recessive
Вік початку
Infancy, Neonatal