Coffin-Lowry syndrome

Coffey-Lowry syndrome produces both mental and physical disabilities. It is thought to be non-progressive, although there is general agreement that facial coarsening and skeletal involvement become more pronounced with age.

Coffin-Lowry syndrome (CLS) is considered rare. It is caused by a mutation in the kinase Rsk-2 protein, a growth factor regulator. The gene was identified in 1996. The gene is located on the X-chromosome; how the defective gene produces the signs and symptoms is still not entirely clear. Coffin-Lowry syndrome was originally described independently by Dr. Coffin and associates in 1966, and again by Dr. Lowry and associates in 1971. In 1975, Dr. Temtamy showed that the cases represented a single syndrome.

A woman who has the CLS gene has a 50% chance of having a child with CLS. It is possible for a mother with no symptoms or family history of CLS to have an affected child. In the case of a spontaneous mutation such as this, the risk of having another affected child is very low. There are no recorded cases of an affected male producing offspring, so the ability of CLS males to father affected children is not known.