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What is Refsum disease, infantile form?

What is Refsum disease, infantile form?

  • Refsum disease, infantile form: A rare inherited biochemical disorder characterized by normal development initially followed by degeneration, facial anomalies and enlarged liver.

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

Refsum disease, infantile form: Introduction

Types of Refsum disease, infantile form:

Broader types of Refsum disease, infantile form:

What causes Refsum disease, infantile form?

Causes of Refsum disease, infantile form: see causes of Refsum disease, infantile form

What are the symptoms of Refsum disease, infantile form?

Symptoms of Refsum disease, infantile form: see symptoms of Refsum disease, infantile form

Onset of Refsum disease, infantile form: birth to 6 months

Can anyone else get Refsum disease, infantile form?

More information: see contagiousness of Refsum disease, infantile form
Inheritance: see inheritance of Refsum disease, infantile form

Refsum disease, infantile form: Testing

Diagnostic testing: see tests for Refsum disease, infantile form.

Misdiagnosis: see misdiagnosis and Refsum disease, infantile form.

How is it treated?

Doctors and Medical Specialists for Refsum disease, infantile form: Medical Geneticist ; see also doctors and medical specialists for Refsum disease, infantile form.
Treatments for Refsum disease, infantile form: see treatments for Refsum disease, infantile form

Name and Aliases of Refsum disease, infantile form

Main name of condition: Refsum disease, infantile form

Other names or spellings for Refsum disease, infantile form:

Infantile Refsum disease, IRD, Infantile form of phytanic acid storage disease

IRD, Infantile Refsum disease, Infantile form of phytanic acid storage disease
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Refsum disease, infantile form: Related Conditions

Research the causes of these diseases that are similar to, or related to, Refsum disease, infantile form:

 

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