Nail–patella syndrome

The Osteoonychodysplasie (syn. Turner - Kieser syndrome or Trauner -Rieger syndrome) is an autosomal dominant genetic disorder that is associated with various malformations and organ dysfunction. Some complex, which is associated with deformations of the fingernails and bone is also known as nail -patella syndrome. The disease is observed worldwide.

The malformation occurs about once among 50 000 newborns, with equal frequency in boys and girls. It is often already in infancy fatal, by chronic renal failure. The diagnosis is suspected by imaging techniques and secured by a renal biopsy. For the treatment of corticosteroids and diuretics are used in advanced cases dialysis. A causal treatment is possible only with a kidney transplant.

The American John Turner, the German Willi band Kieser, the Austrian Richard Trauner and Herwigh Rieger and some other doctors published case studies of this genetic disease in the 1920s and 1930s.

Causes

Cause of the disease is a mutation in LMX1B gene.

Symptoms

In the nail - patella syndrome ( toenails rare ) are usually deformed fingernails, too small or absent. The kneecaps are also usually too small or absent. The life expectancy in people with nail -patella syndrome is not reduced.

In a Osteoonychodysplasie skeletal dysplastic elbow can ( zBRadiusköpfchenluxationen ), curvature of the spine (scoliosis ) and exostoses of the ilia ( " Beck horns " ) occur. Occur in various types of extension deficit, and hand and Fußdeformationen ( clubfoot ).

In addition, organic disorders such as renal failure ( in 50% of affected people ), glaucoma and cardiac arrhythmias may occur.