All are features of Jansen's disease, except:
Mutations in the PTH/PTHrP receptor is the cause of this rare autosomal dominant syndrome. The disorder leads to sho-limbed dwarfism due to abnormal regulation of chondrocyte maturation in the growth plates of the bone. In adult life, there are numerous abnormalities in bone, including multiple cystic resorptive areas resembling severe hyperparathyroidism. Hypercalcemia and hypophosphatemia with undetectable or low PTH levels are typically seen. Ref: Harrisons Principles of Internal Medicine, 18th Edition, Page 3105.
The disorder leads to sho-limbed dwarfism
High parathormone levels
Hypophosphatemia
Hypercalcemia