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What is Richards-Rundle syndrome?

What is Richards-Rundle syndrome?

  • Richards-Rundle syndrome: A very rare syndrome characterized mainly by mental retardation, ataxia, deafness and ketoaciduria.

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

Richards-Rundle syndrome: Introduction

Types of Richards-Rundle syndrome:

Broader types of Richards-Rundle syndrome:

What causes Richards-Rundle syndrome?

Causes of Richards-Rundle syndrome: see causes of Richards-Rundle syndrome

What are the symptoms of Richards-Rundle syndrome?

Symptoms of Richards-Rundle syndrome: see symptoms of Richards-Rundle syndrome

Richards-Rundle syndrome: Testing

Diagnostic testing: see tests for Richards-Rundle syndrome.

Misdiagnosis: see misdiagnosis and Richards-Rundle syndrome.

How is it treated?

Doctors and Medical Specialists for Richards-Rundle syndrome: Pediatrician, Neurologist ; see also doctors and medical specialists for Richards-Rundle syndrome.
Treatments for Richards-Rundle syndrome: see treatments for Richards-Rundle syndrome

Name and Aliases of Richards-Rundle syndrome

Main name of condition: Richards-Rundle syndrome

Other names or spellings for Richards-Rundle syndrome:

Ketoaciduria - mental deficiency - ataxia - deafness, ketoaciduria [mental deficiency - ataxia - deafness], ataxia [deafness - retardation syndrome with ketoaciduria], RRS, Ataxia-deafness-retardation syndrome with ketoaciduria, Familial ataxia-hypogonadism syndrome, Ketoaciduria-mental deficiency syndrome

Ataxia-deafness-retardation syndrome with ketoaciduria, Familial ataxia-hypogonadism syndrome, Ketoaciduria-mental deficiency syndrome, RRS
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

 

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