Though the pathomechanism of<unk>  is unknown, it may 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 throughout the human body. The cilia defects adversely affect "numerous critical developmental signaling pathways" essential to cellular development.
Marden–Walker syndrome
Roberts syndrome
Norman–Roberts syndrome
Uhl anomaly
Down syndrome
Renal dysplasia-limb defects syndrome
Birk-Barel syndrome
Spina bifida