Nail-patella syndrome

Nail-patella syndrome (NPS) is a rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.

Patellar hypoplasia

Underdevelopment of the patella.


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(per page)
PMID (PMCID)
18549487
(2438370)
 OTHER
Isolated loss of inferior pubic ramus: a case report.
Saber A.
J Med Case Rep. 2008;2:202.
There are well-known clinical syndromes concerned with hypoplasia of ischiopubic bone, such as small patella syndrome, nail-patella syndrome, ischiopubic-patellar hypoplasia, and ischiopubic hypoplasia.
8154501
 MIXED_SAMPLE Adult
Inherited diseases of the glomerular basement membrane.
Bodziak KA, Hammond WS, Molitoris BA.
Am J Kidney Dis. 1994;23(4):605-18.
Nail-patella syndrome is characterized by nail dysplasia, patellar hypoplasia or aplasia, and nephropathy.
3225824
 MIXED_SAMPLE Adult
Genetic counselling in hereditary osteo-onychodysplasia (HOOD, nail-patella syndrome) with nephropathy.
Looij BJ Jr, te Slaa RL, Hogewind BL, van de Kamp JJ.
J Med Genet. 1988;25(10):682-6.
Hereditary osteo-onychodysplasia (HOOD, nail-patella syndrome) is an autosomal dominant condition characterised by nail dysplasia, patellar hypoplasia or aplasia, and nephropathy.