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Hypophosphatasia: Introduction

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

Home Diagnostic Testing

Home medical testing related to Hypophosphatasia:

Wrongly Diagnosed with Hypophosphatasia?

Hypophosphatasia: Related Patient Stories

Hypophosphatasia: Complications

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

Hypophosphatasia: Undiagnosed Conditions

Commonly undiagnosed diseases in related medical categories:

Misdiagnosis and Hypophosphatasia

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Hypophosphatasia: Research Doctors & Specialists

Research related physicians and medical specialists:

Other doctor, physician and specialist research services:

Hospitals & Clinics: Hypophosphatasia

Research quality ratings and patient safety measures for medical facilities in specialties related to Hypophosphatasia:

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

User Interactive Forums

Read about other experiences, ask a question about Hypophosphatasia, or answer someone else's question, on our message boards:

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

Related Hypophosphatasia Info

Videos about Hypophosphatasia


Forum Discussions about Hypophosphatasia

More information about Hypophosphatasia

  1. Hypophosphatasia: Introduction
  2. Symptoms
  3. Causes
  4. Treatments
  5. Misdiagnosis
  6. Home Testing
  7. Complications

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