A rare genetic malformation where the kneecap is absent or reduced.
- Aplasia of patella
- Underdeveloped of kneecap
The mechanisms underlying the different manifestations and severity of the symptoms in this disorder remain uncertain.
- NPS is known to be an autosomal dominant hereditary disease.
- A genetic abnormality is believed to lead to altered connective tissue metabolism with widespread structural defects in collagen.
- Abnormal collagen deposition in the glomeruli probably causes the nephropathy associated with NPS.