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Hypophosphatasia Information diseasesDatabase

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Location: http://www.diseasesdatabase.com/ddb6516.htm

Description: Hypophosphatasia may cause or feature Miscellaneous syndromes Nephrocalcinosis Osteomalacia Pathological fracture Symptoms and Signs Blue sclerae Disproportionate short stature Genu varum Tooth loss Biochemical abnormalities Alkaline phosphatase levels low (plasma or serum) Hypercalcaemia Hypercalciuria Congenital conditions Craniosynostosis Inflammatory conditions Pyrophosphate arthropathy may be allelic with Phosphoethanolaminuria Autosomal recessive condition Hypophosphatasia: "A genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcemia, ethanolamine phosphatemia, and ethanolamine phosphaturia. Clinical manifestations include severe skeletal defects resembling vitamin D-resistant rickets, failure of the calvarium to calcify, dyspnea, cyanosis, vomiting, constipation, renal calcinosis, failure to thrive, disorders of movement, beading of the costochondral junction, and rachitic bone changes. (From Dorland, 27th ed)" Source: Medical Subject Headings, 2007_2006_08_08 -------------------------------------------------------------------------------- Hypophosphatasia: "genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcemia, ethanolamine phosphatemia, and ethanolamine phosphaturia; manifestations include severe skeletal defects resembling vitamin D resistant rickets, failure of the calvarium to calcify, dyspnea, cyanosis, vomiting, constipation, renal calcinosis, failure to thrive, disorders of movement, beading of the costochondral junction, and rachitic bone changes." Source: CRISP Thesaurus, 2006

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Added: Sat Mar 31 2007