Nail-patella syndrome is a rare inherited disorder of mesenchymal tissue characterized by abnormalities of bones, joints, fingernails and toenails, and kidneys.

Nail-patella syndrome is an autosomal dominant disorder caused by a mutation in the gene for the transcription factor LMX1B, which plays an important role in vertebrate limb and kidney development.

There is bilateral hypoplasia or absence of the patella, subluxation of the radial head at the elbows, and bilateral accessory iliac horns. Fingernails and toenails are absent or hypoplastic, with pitting and ridges.

Renal dysfunction occurs in up to 50% of patients due to focal segmental glomerular deposits of IgM and C3. Proteinuria is the most common manifestation, but about 30% of patients with renal involvement slowly progress to renal failure.

Diagnosis is suggested clinically; sometimes renal biopsy is indicated, which is diagnostic. LMX1B mutation analysis is possible, including for prenatal diagnosis, but the type of mutation does not usually predict clinical severity.

There is no specific treatment, but when indicated, kidney transplantation has been successful without evidence of recurrent disease in the graft.

Last full review/revision February 2008 by Frank Pessler, MD, PhD; David D. Sherry, MD