Absent patella

Synonyms

Patella aplasia-hypoplasia
PTLAH
Familial absence of the patella
Familial aplasia of the patella (subtype)

Overview

A rare genetic malformation where the kneecap is absent or reduced.

Symptoms

  • Aplasia of patella
  • Underdeveloped of kneecap

Causes

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.

Resources

  • NIH