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Nail-patella syndrome: An hereditary condition characterized by abnormally formed or absent nails and underdeveloped or absent kneecaps (patellae). Other features include:
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.
Definition Nail-patella syndrome is a genetic disease of the connective tissue that produces defects in the fingernails, bone joints, and kidneys. Description ...
Nail-Patella Syndrome definition, description of symptoms, and information on treatment and research at the University of Michigan Kellogg Eye Center in Ann Arbor, MI.
Nail-patella syndrome (NPS), also known as hereditary osteo-onychodysplasia (HOOD), is an uncommon genetically determined disease that involves organs of both ...
Nail-patella syndrome is characterized by abnormalities of the nails, knees, elbows, and pelvis. The features of nail-patella syndrome vary in severity between ...
Disease characteristics. Nail-patella syndrome (NPS) involves a classic clinical tetrad of changes in the nails, knees, and elbows, and the presence of iliac horns.