Besides Pyle’s disease, human skeletal dysplasias with normal bone lengths and Erlenmeyer flask deformities occur with mutations in ANKH (craniometaphyseal dysplasia,29COL10A1 (Schmid metaphyseal dysplasia,30,31FLNA (frontometaphyseal dysplasia,32GBA (Gaucher’s disease,33LRRK1 (osteosclerotic metaphyseal dysplasia,34PTH1R (Jansen’s metaphyseal chondrodysplasia,35 and CLCN7,36,37PLEKHM1,38 and SNX1039 each resulting in osteopetrosis. The gene discussed is CLCN7; the disease is osteosclerotic metaphyseal dysplasia.