Hypophosphatasia: A rare genetic disorder characterized by short limbs, dwarfism and general lack of bone calcification. More detailed information about the symptoms, causes, and treatments of Hypophosphatasia is available below.
See full list of 30 symptoms of Hypophosphatasia
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Types of Hypophosphatasia
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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 - Diseases Database)
Hypophosphatasia is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Hypophosphatasia, or a subtype of Hypophosphatasia,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list Hypophosphatasia as a "rare disease".
Source - Orphanet
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