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.
Farlex Partner Medical Dictionary © Farlex 2012
con·gen·i·tal hy·po·phos·pha·ta·si·a(kŏn-jeni-tăl hīpō-fos-fă-tāzē-ă) [MIM*241500]
Disorder associated with a low serum alkaline phosphatase, skeletal abnormalities, pathologic fractures, craniostenosis, premature loss of teeth, and often early death.
Medical Dictionary for the Dental Professions © Farlex 2012