Abstract
Hypophosphatasia (HPP) and Microcephalic Osteodysplastic Primordial Dwarfism type II (MOPD II) are rare inherited diseases which arise from the ALPL gene and PCNT gene respectively. HPP has nonspecific alkaline phosphatase (TNSALP) deficiency which causes the manifestations of skeletal deformities, fractures, nephrocalcinosis, seizures, respiratory failure and poor dentition. While in MOPD typically presents with bone, vascular and hematological abnormalities. Both of these diseases have a variety of symptoms which can vary in severity which can make the diagnosis difficult but important to avoid future complications.
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