Epiphyseal chondrodysplasia, Miura type (ECDM) is a skeletal dysplasia with tall stature, arachnodactyly of the hands, macrodactyly of the great toes, scoliosis, coxa valga, and slipped capital femoral epiphysis. The disease is caused by heterozygous mutation in the NPR2 gene on chromosome 9p13 and relates to defective natriuretic peptide signaling pathway.
