Contributor: Gordon K. Klintworth
Nail-patella syndrome (onychoosteodysplasia, Turner-Kieser syndrome, Fong disease, OMIM #161200) is an autosomal dominant syndrome caused by a mutation in the LMX1B gene. For almost five decades the condition has been known to link to the locus of the ABO blood group. The disorder is characterized by dysplasia of the nails [dysplasia - nail], hypoplastic or absent patellae, iliac horns, an abnormality of the elbows that interfers with supination and pronation. Some cases have a nephropathy and characteristic ultrastructural changes have been found in the glomerulus even in persons lacking clinical evidence of renal disease. Neurologc and vasomotor symptoms (poor peripheral circulation with cold hands and feet or Raynaud phenomenon) are also common the the nail-patella syndrome. Affected individuals have an increased prevalance of epilepsy (6%). Primary open angle glaucoma [glaucoma - primary open angle] has been found to cosegregate with nail-patella-syndrome in some families. Lester sign is found more often than in the general population. Nail-patella syndrome is usually benign but death my result from complications early in life.