Disease Information for Hypophosphatasia

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Clinical Manifestations
Signs & Symptoms
Genu valgus/knockneed/sign
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Hypercalciuria with normal serum calcium
Hypercalciuria/Normocalcemia pattern
Abnormal Lab Findings - Decreased
Alkaline phosphatase, serum (Lab)
Abnormal Lab Findings - Increased
URINE Calcium
Diagnostic Test Results
X-RAY
Xray/Joint abnormal
Xray/Joint cartilage calcification
Xray/Looser's/Pseudofractures/Skeletal
Xray/Ribs/anterior enlargements, symmetrical
Associated Diseases & Rule outs
Rule Outs
Osteomalacia
Associated Disease & Complications
Hypercalciuria
Hypercalcuria
Osteoporosis/osteopenia
Pseudogout (CPPD) arthritis
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Osteoporosis Secondary
Process
PROCESS/Metabolic/storage disorder (category)
Synonyms
Synonym
Alkaline phosphatase deficiency, Deficiency of alkaline phosphatase, Deficiency of alkaline phosphatase (disorder), hypophosphatasia, Hypophosphatasia (disorder), Hypophosphatasias, Synonym/Phosphoethanolaminuria, Synonym/Rathburn's syndrome
Definition

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)-------------

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External Links Related to Hypophosphatasia
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Wikipedia
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PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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