Coffin-Lowry syndrome

What Kind of Doctor Do I Need? Slideshow

Medical Definition of Coffin-Lowry syndrome

Coffin-Lowry syndrome: An X-linked form of mental retardation in which the affected males have short stature and characteristic face, finger and skeletal abnormalities. Facial features include prominent forehead, widespread eyes, downslanting eyeslits, prominent ears, thick lips and irregular/missing teeth. The hands are large and soft with lax skin and tapering fingers. Skeletal changes include kyphosis/scoliosis and pectus carinatum (pigeon breast) or pectus excavatum (caved-in chest). The syndrome is due to mutation of the gene on the X chromosome that encodes RSK2, a growth-factor regulated protein kinase.


Subscribe to MedicineNet's General Health Newsletter

By clicking Submit, I agree to the MedicineNet's Terms & Conditions & Privacy Policy and understand that I may opt out of MedicineNet's subscriptions at any time.

Reviewed on 6/9/2016

Health Solutions From Our Sponsors