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
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symptoms of Hypophosphatasia
Home Diagnostic Testing
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Wrongly Diagnosed with Hypophosphatasia?
Hypophosphatasia: Related Patient Stories
Read more about complications of Hypophosphatasia.
Causes of Hypophosphatasia
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Disease Topics Related To Hypophosphatasia
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Less Common Symptoms of Hypophosphatasia
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Hypophosphatasia: Undiagnosed Conditions
Commonly undiagnosed diseases in related medical categories:
Misdiagnosis and Hypophosphatasia
Mild worm infections undiagnosed in children: Human worm infestations, esp. threadworm, can be overlooked in some cases,
because it may cause only mild or even absent...read more »
Mesenteric adenitis misdiagnosed as appendicitis in children: Because appendicitis is one of the
more feared conditions for a child with abdominal pain, it can be over-diagnosed
(it can, of course...read more »
Blood pressure cuffs misdiagnose hypertension in children: One known misdiagnosis issue
with hyperension, arises in relation to the simple equipment used to test blood pressure.
The "cuff...read more »
Children with migraine often misdiagnosed: A migraine often fails to be
correctly diagnosed in pediatric patients.
These patients are not the typical migraine sufferers, but migraines can...read more »
Read more about Misdiagnosis and Hypophosphatasia
Hypophosphatasia: Research Doctors & Specialists
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Hospitals & Clinics: Hypophosphatasia
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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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