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What is Meier-Blumberg-Imahorn syndrome?

What is Meier-Blumberg-Imahorn syndrome?

  • Meier-Blumberg-Imahorn syndrome: A very rare syndrome characterized mainly by high urine calcium level and eye problems.

Meier-Blumberg-Imahorn syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Meier-Blumberg-Imahorn syndrome, or a subtype of Meier-Blumberg-Imahorn syndrome, 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 Meier-Blumberg-Imahorn syndrome as a "rare disease".
Source - Orphanet

Meier-Blumberg-Imahorn syndrome: Introduction

Types of Meier-Blumberg-Imahorn syndrome:

Broader types of Meier-Blumberg-Imahorn syndrome:

How serious is Meier-Blumberg-Imahorn syndrome?

Complications of Meier-Blumberg-Imahorn syndrome: see complications of Meier-Blumberg-Imahorn syndrome

What causes Meier-Blumberg-Imahorn syndrome?

Causes of Meier-Blumberg-Imahorn syndrome: see causes of Meier-Blumberg-Imahorn syndrome

What are the symptoms of Meier-Blumberg-Imahorn syndrome?

Symptoms of Meier-Blumberg-Imahorn syndrome: see symptoms of Meier-Blumberg-Imahorn syndrome

Complications of Meier-Blumberg-Imahorn syndrome: see complications of Meier-Blumberg-Imahorn syndrome

Meier-Blumberg-Imahorn syndrome: Testing

Diagnostic testing: see tests for Meier-Blumberg-Imahorn syndrome.

Misdiagnosis: see misdiagnosis and Meier-Blumberg-Imahorn syndrome.

How is it treated?

Doctors and Medical Specialists for Meier-Blumberg-Imahorn syndrome: Pediatrician, Internist ; see also doctors and medical specialists for Meier-Blumberg-Imahorn syndrome.
Treatments for Meier-Blumberg-Imahorn syndrome: see treatments for Meier-Blumberg-Imahorn syndrome

Name and Aliases of Meier-Blumberg-Imahorn syndrome

Main name of condition: Meier-Blumberg-Imahorn syndrome

Other names or spellings for Meier-Blumberg-Imahorn syndrome:

hypercalciuria [macular coloboma], hypomagnesemia, renal, with ocular involvement, hypomagnesemia, familial, with hypercalciuria, nephrocalcinosis and severe ocular involvement, FHHNC with severe ocular involvement, macular coloboma, bilateral, with hypercalciuria, Idiopathic hypercalciuria with bilateral macular colobomata

Idiopathic hypercalciuria with bilateral macular colobomata
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

 

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