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nail-patella syndrome

nail-patella syndrome A hereditary condition that is characterized by abnormally formed or absent nails and underdeveloped or absent kneecaps. Abbreviated NPS. Other features of NPS include iliac horns; elbow abnormalities that interfere with full range of motion (pronation and supination); glaucoma; and kidney disease that resembles glomerulonephritis, which can be progressive and lead to kidney failure. NPS is inherited as an autosomal dominant trait. NPS is caused by mutations in a gene LMX1B (the LIM homeobox transcription factor 1, beta gene) on chromosome 9. Also known as hereditary osteo-onychodysplasia, Fong disease, and Turner-Kieser syndrome.