Marden-Walker syndrome
Overview
A rare genetic disorder characterized by blepharophimosis, joint contractures and fixed facial expression
Symptoms
* Growth deficiency * Mental retardation * Reduced muscle tone * Strabismus * Small head
Causes
Marden-Walker syndrome appears to be caused by a genetic defect which manifests as a dysfunctional molecular mechanism in the primary cilia structures of the cell. These organelles are present in many cellular types througout the human body. The cilia defects adversely affect "numerous critical developmental signaling pathways" essential to cellular development