congenital hypophosphatasia

con·gen·i·tal hy·po·phos·pha·ta·si·a

[MIM*241500]
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.

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.
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