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.
Symptoms of Hypophosphatasia
See full list of 30
symptoms of Hypophosphatasia
Home Diagnostic Testing
Home medical testing related to Hypophosphatasia:
- Child Behavior: Home Testing
- Child General Health: Home Testing
Wrongly Diagnosed with Hypophosphatasia?
Hypophosphatasia: Related Patient Stories
Read more about complications of Hypophosphatasia.
Causes of Hypophosphatasia
Read more about causes of Hypophosphatasia.
Disease Topics Related To Hypophosphatasia
Research the causes of these diseases that are similar to, or related to, Hypophosphatasia:
Less Common Symptoms of Hypophosphatasia
Read more about symptoms of Hypophosphatasia
Hypophosphatasia: Undiagnosed Conditions
Commonly undiagnosed diseases in related medical categories:
Misdiagnosis and Hypophosphatasia
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Blood pressure cuffs misdiagnose hypertension in children: One known misdiagnosis issue
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These patients are not the typical...read more »
Read more about Misdiagnosis and Hypophosphatasia
Hypophosphatasia: Research Doctors & Specialists
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Hospitals & Clinics: Hypophosphatasia
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for medical facilities in specialties related to Hypophosphatasia:
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Choosing the Best Hospital:
More general information, not necessarily in relation to Hypophosphatasia,
on hospital performance and surgical care quality:
Statistics for Hypophosphatasia
Hypophosphatasia: Broader Related Topics
Types of Hypophosphatasia
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Definitions of 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 - 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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