Nail-patella syndrome

Nail-patella syndrome: An hereditary condition with abnormally formed (dysplastic) or absent nails and absent or underdeveloped (hypoplastic) kneecaps (patellae). Other features include: iliac horns, abnormality of the elbows interfering with full range of motion (pronation and supination), and kidney disease resembling glomerulonephritis, which is often mild but can be progressive and lead to renal failure. Nail-patella syndrome is inherited as dominant gene. This means that the disease can be transmitted by one affected parent. The nail-patella gene locus found linked genetically to the ABO blood group in 1965 is now known to be in chromosome region 9q34. Also called Turner-Kieser syndrome, and Fong disease.