Marden Walker like syndrome
Overview
A very rare syndrome characterized mainly by long, thin fingers, contractures from birth and narrow eye slits.
Symptoms
* Narrow eye slits * Long thin fingers * Joint contractures * Narrow nose * Beaked nose
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