What is Coffin-Lowry syndrome?
A syndrome is a set of specific medical signs, characteristics and symptoms. 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. Coffin-Lowry syndrome (CLS) is somewhat rare. CLS has been reported in various ethnic groups (Young, 1988). About 65% of cases of Coffin-Lowry syndrome are caused by changes (mutations) in the kinase RPS6KA3 (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. There are still many cases of CLS where the exact cause is unknown. No estimate of the prevalence of CLS has been published. A rate of 1 in 40,000 to 1 in 50,000 births may be reasonable, but this may be an underestimate. CLS is an X-linked dominant disorder. Girls have two X chromosomes. Boy
