AJKD Atlas of Renal Pathology: Nail-Patella Syndrome–Associated Nephropathy

The nail-patella syndrome (OMIM #161200) or hereditary osteo-onychodysplasia (HOOD syndrome) is a rare autosomal dominant disorder caused by LMX1B mutations, characterized by limb and pelvic skeletal abnormalities (eg, hypoplastic or absent patella, elbow dysplasia, and iliac horns), dystrophic nails and distal digital abnormalities, and kidney disease, with an estimated incidence of 1/50,000. Renal involvement is the major determinant of prognosis. Besides kidney disease and skeletal and nail abnormalities, other findings may include sensorineural hearing loss, glaucoma, gastrointestinal involvement, and vasomotor dysfunction.

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