Nail-patella syndrome
An hereditary condition characterized by abnormally formed or absent nails and underdeveloped or absent kneecaps (patellae). Other features include: {{}}Iliac horns Abnormality of the elbows interfering with full range of motion (pronation and supination) Kidney disease resembling glomerulonephritis, which can be progressive and lead to renal failure. Nail-patella syndrome (NPS) is inherited as an autosomal dominant trait. The risk NPS will be transmitted by an affected parent to each child is 50%. In a pioneering research, the gene for NPS was found in 1965 to be linked genetically to the ABO blood group locus in chromosome region 9q34. NPS is caused by mutations in a gene called LMX1B (the LIM homeo box transcription factor 1, beta gene). NPS is also called Fong disease and Turner-Kieser syndrome.

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a hereditary, autosomal dominant syndrome consisting of dystrophy of the nails, absence or hypoplasia of the patella, hypoplasia of the lateral side of the elbow joint, bilateral iliac horns, and often thickening of the lamina densa of the renal glomeruli. Called also hereditary osteo-onychodysplasia.

Medical dictionary. 2011.

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