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Welcome to the HFS Association website!
The HFS Association aims to raise awareness of the disease called Hyaline Fibromatosis Syndrome (HFS). This association and this website will increase visibility to help patients, families and scientists to interact. Through these exchanges, our motivation is to promote and fund scientific research to increase knowledge about the disease.
This website provides an exchange platform where you can find information about the disease.
This year, two laboratories in Lausanne, Switzerland will organize an international event dedicated to the disease.
These days will be devoted to meeting patients’ families and the most advanced scientists in the field. For further information, please visit our webpage “Events - HFS meeting 2013”.
HFS disease is a rare genetic and orphan disease related to the absence or malfunctioning receptor protein called CMG2 (Capillary Morphogenesis Gene 2). The loss of function of this protein leads to the development of many symptoms affecting heavily the health, physical development and autonomy of patients. The main symptoms are: development of nodules on the body, stiffening of the joints resulting in loss of mobility, destabilization of the digestive system. There is a gradation of severity of symptoms, the more severe cases having a life expectancy of about 5 years, and the more moderate one of about 40 years.
The role of this protein remains to be determined. It is important to continue research to develop therapeutic options.
