Nail-patella syndrome

Nail-patella syndrome (NPS) is a genetic disorder that is also referred to as Iliac Horn Syndrome, Hereditary Onychoostedysplasia, Fong Disease or Turner-Kiser Syndrome. The Nail-Patella syndrome is inherited via autosomal dominancy (see autosomal dominant) linked to aberrancy on human chromosome 9's q arm (q stands for longer arm), 9q34. This autosomal dominancy means that only a single copy, instead of both, is sufficient for disorder to be expressed in the offspring, meaning that the chance of getting the disorder from an affected parent is 50%. The frequency of the occurrence is 1/50,000. The disorder is linked to the ABO blood group locus.
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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.

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It is an autosomal dominant condition which presents with triangular rather than half-moon shaped lanulae, especially of the thumb and forefingers. The nail-plates may be small or dystrophic. The patellae are hypoplastic or absent. Other skeletal abnormalities may be present, and renal impairment(glomerulonephritis) occurs in up to 36% of individuals.