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.

Behind the L1CAM syndrome (also CRASH or L1 syndrome) is a hereditary X-chromosomal development Stohr. Part of this disorder is a hydrocephalus of varying severity, spasms of the legs, adducted thumbs, and mental retardation.

Male patients are particularly affected and develop more pronounced symptoms which, in addition to their age, are more pronounced. Female tumors rarely have a severe manifestation of the syndrome.

The cause of the L1 syndrome is mutations in the L1CAM gene at location 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.