CLCN7 and metaphyseal chondrodysplasia, Jansen type: 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.