L1CAM syndrome

The L1CAM syndrome (also CRASH or L1 syndrome) is caused by a hereditary X-linked developmental disorder. Part of this disorder is a hydrocephalus of varying severity, spasms of the legs, adducted thumbs, and mental retardation.

Particularly affected are male patients, who develop more pronounced symptoms, which are more pronounced with advancing age. Female patients rarely suffer from a severe type of the syndrome.

The cause of L1 syndrome is mutations in the L1CAM gene at Xq28, which encodes L1 cell adhesion molecules, which in turn are involved in the development of the nervous system. The type of gene mutation can be very different.