Coffin Lowry Syndrome is a rare genetic disorder distinguished by mental retardation. It is caused by a spontaneous 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 malfunctioning gene produces the signs and symptoms is still not completely clear.

Coffin Lowry Syndrome can be inherited. A woman who has Coffin Lowry Syndrome has a 50/50 chance of having a child with Coffin Lowry Syndrome, depending on which of her X chromosomes are inherited by the child.

Clinical Description/Major Symptoms

Coffin-Lowry syndrome is characterized by severe to profound mental retardation in males; intellect ranges from normal to profoundly retard in heterozygous females. Early developmental assessments may overestimate the ultimate developmental prognosis. The advent of molecular genetic diagnosis may aid in confirming the diagnosis of additional...