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Medical Term:

congenital hypophosphatasia


a rare disorder associated with a low level of serum alkaline phosphatase, hyperphosphaturia, hypercalcemia, skeletal abnormalities, pathologic fractures, craniostenosis, premature loss of teeth, and often early death; eyes may show blue sclerae, lid retraction, band-shaped keratopathy, cataracts, papilledema, and optic atrophy; autosomal recessive inheritance, caused by mutation in the liver alkaline phosphatase gene (ALPL) on chromosome 1p.

© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.