Characteristics of CLS

 

Coffin-Lowry syndrome is not as rare as once thought. The estimated prevalence at birth is 1/45,000.  An individual with CLS may have some or all of the characteristics list below, or any combination.  The most telling diagnostic clues are tapered fingers, downward slanting eyes, and delayed bone development. Distal tufting of the fingertip bones is also highly diagnostic, but this is only visible on X-ray.  It is important to remember that each individual is unique and that their own genetic makeup will also be a factor.  

 

Craniofacial Cognitive/ Behavior Hands Teeth and Mouth Hearing and Vision Mobility Skeletal Cardiac Lifespan