Kosaki / Penttinen syndromes
Kosaki syndrome and Pentinen syndrome are ultra-rare genetic disorders.
Around 30 patients are currently known internationally.
Kosaki syndrome was first described in Japan in 2015. This syndrome is also known as Kosaki overgrowth syndrome (KOGS) because it leads to an excessive growth of certain parts of the body.
Penttinen syndrome (PS) was discovered in Finland in the late 1990s. This syndrome is also called Premature ageing syndrome, Penttinen-type because it is responsible for premature ageing of the body.