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 aplasia

Absence of the patella.


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PMID (PMCID)
16085960
 MIXED_SAMPLE Adult
[Clinical picture and molecular analysis in a familial case of Nail-Patella Syndrome--identification of a new mutation in LMX1B gene].
Szczaluba K, Obersztyn E, Kozlowski K, Ravazzolo R, Golabek B, Mazurczak T.
Med Wieku Rozwoj. 2005;9(2):195-203.
The Nail-Patella Syndrome (NPS) (OMIM: 161200) is an autosomal dominant disorder characterized by skeletal malformations, such as: patellar aplasia/ hypoplasia, iliac horns on X-ray as well as nail dysplasia, renal and ocular abnormalities.