Nail-patella syndrome

Definition

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.

Also known as Fong disease, hereditary Osteo-onychodysplasia, Nail Patella Syndrome, nail-patella syndrome, NPS 1, NPS1, onychoosteodysplasia, osteo-onychodysplasia, Turner-Kieser syndrome — per MONDO

Also identified as

• DOID 9467 per MONDO
• ICD9 759.89 per MONDO
• MESH D009261 per MONDO
• NCIT C75120 per MONDO
• OMIM 161200 per MONDO
• Orphanet 2614 per MONDO
• SCTID 22199006 per MONDO
• UMLS C0027341 per MONDO