Blood levels of parathyroid hormone (PTH) are undetectable, but the mutation in the PTH1R leads to auto-activation of the signaling as though the hormone PTH is present. Severe<unk>  produces a dwarfing phenotype, or short stature. Examination of the bone reveals normal epiphyseal plates but disorganized<unk>  regions. Hypercalcemia (elevated levels of calcium in the blood) and hypophosphatemia (reduced blood levels of phosphate), and elevated urinary calcium and phosphate, are generally found in<unk> . The absence of hypercalcemia does not eliminate the disease from consideration. Physical irregularities often associated with<unk> 's include: prominent or protruding eyes, a high-arched palate, micrognathia or abnormal smallness of the jaws – particularly the lower (mandible) jaw, choanal stenosis, wide cranial sutures and irregular formation of the long bones which can resemble rickets. Nephrocalcinosis (accumulation of calcium in the renal interstitium) is seen commonly as well.
Jansen's metaphyseal chondrodysplasia
Sprengel's deformity
Metaphyseal chondrodysplasia Schmid type
Achondrogenesis type 2
Majewski's polydactyly syndrome
Achondrogenesis type 1B
Tailor's bunion
Léri–Weill dyschondrosteosis