Nail patella syndrome
Type of disease: Rare conditions
Nail patella syndrome is an inherited condition characterized by abnormalities of the nails, knees, elbows, and pelvis. Other areas of the body may also be affected, particularly the eyes and kidneys. The features of nail-patella syndrome vary in severity between affected individuals, even among members of the same family. This condition is transmitted in an autosomal dominant fashion and results from mutations in the LMX1B gene. Treatment is symptomatic and supportive. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.