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
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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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