klippelést
Klippel-Feil syndrome, also known as Klippel-Trenaunay syndrome, is a rare genetic disorder characterized by the triad of port-wine stains, varicose veins, and limb overgrowth. It is caused by a mutation in the GNAQ gene, which is involved in the regulation of cell growth and differentiation. The syndrome is named after the French dermatologist Jean-Louis Klippel and the German dermatologist Karl Trenaunay, who first described the condition in the 19th century.
The port-wine stains are flat, red or purple birthmarks that can appear anywhere on the body. They
Klippel-Feil syndrome is typically diagnosed in childhood, although it can also occur in adults. The diagnosis
The prognosis for individuals with Klippel-Feil syndrome is generally good, although the condition can cause significant