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Refsum disease, infantile form

Refsum disease, infantile form: Introduction

Refsum disease, infantile form: A rare inherited biochemical disorder characterized by normal development initially followed by degeneration, facial anomalies and enlarged liver. More detailed information about the symptoms, causes, and treatments of Refsum disease, infantile form is available below.

Symptoms of Refsum disease, infantile form

Home Diagnostic Testing

Home medical testing related to Refsum disease, infantile form:

Wrongly Diagnosed with Refsum disease, infantile form?

Refsum disease, infantile form: Deaths

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Causes of Refsum disease, infantile form

Read more about causes of Refsum disease, infantile form.

Disease Topics Related To Refsum disease, infantile form

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Refsum disease, infantile form: Undiagnosed Conditions

Commonly undiagnosed diseases in related medical categories:

Misdiagnosis and Refsum disease, infantile form

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 symptoms. Although the...read more »

Undiagnosed stroke leads to misdiagnosed aphasia: BBC News UK reported on a man who had been institutionalized and treated for mental illness because he suffered from sudden inability to speak. This was...read more »

Dementia may be a drug interaction: A common scenario in aged care is for a patient to show mental decline to dementia. Whereas this can, of course, occur due to various medical conditions, such as a stroke or ...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 ...read more »

Rare type of breast cancer without a lump: There is a less common form of breast cancer called inflammatory breast cancer. Its symptoms can...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" around the...read more »

Mild traumatic brain injury often remains undiagnosed: Although the symptoms of severe brain injury are hard to miss, it is less clear for milder...read more »

MTBI misdiagnosed as balance problem: When a person has symptoms such as vertigo or dizziness, a diagnosis of brain injury may go overlooked. This is...read more »

Brain pressure condition often misdiagnosed as dementia: A condition that results from an excessive pressure of CSF within the brain is often...read more »

Post-concussive brain injury often misdiagnosed: A study found that soldiers who had suffered a concussive injury in battle often were misdiagnosed on their return. A...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 also occur in children. See ...read more »

Vitamin B12 deficiency under-diagnosed: The condition of Vitamin B12 deficiency is a possible misdiagnosis of various conditions, such as multiple sclerosis (see symptoms of multiple sclerosis)...read more »

Refsum disease, infantile form: Research Doctors & Specialists

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Hospitals & Clinics: Refsum disease, infantile form

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Refsum disease, infantile form: Rare Types

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Refsum disease, infantile form: Animations

Statistics for Refsum disease, infantile form

Refsum disease, infantile form: Broader Related Topics

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Definitions of Refsum disease, infantile form:

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

Related Refsum disease, infantile form Info

More information about Refsum disease, infantile form

  1. Refsum disease, infantile form: Introduction
  2. Symptoms
  3. Causes
  4. Treatments
  5. Misdiagnosis
  6. Home Testing
  7. Types
  8. Deaths
 

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