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What is Johnson-Munson syndrome?

What is Johnson-Munson syndrome?

  • Johnson-Munson syndrome: A rare congenital disorder characterized by missing fingers and toes, abnormal vertebrae and various malformations of the organs.

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

Johnson-Munson syndrome: Introduction

Types of Johnson-Munson syndrome:

Broader types of Johnson-Munson syndrome:

What causes Johnson-Munson syndrome?

Causes of Johnson-Munson syndrome: see causes of Johnson-Munson syndrome

What are the symptoms of Johnson-Munson syndrome?

Symptoms of Johnson-Munson syndrome: see symptoms of Johnson-Munson syndrome

Johnson-Munson syndrome: Testing

Diagnostic testing: see tests for Johnson-Munson syndrome.

Misdiagnosis: see misdiagnosis and Johnson-Munson syndrome.

How is it treated?

Doctors and Medical Specialists for Johnson-Munson syndrome: Neonatologist ; see also doctors and medical specialists for Johnson-Munson syndrome.
Treatments for Johnson-Munson syndrome: see treatments for Johnson-Munson syndrome

Name and Aliases of Johnson-Munson syndrome

Main name of condition: Johnson-Munson syndrome

Other names or spellings for Johnson-Munson syndrome:

Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis, aphalangy of the hands and feet [hemivertebrae - visceral malformations], Aphalangy with Hemivertebrae, Aphalangy of the hands and feet, hemivertebrae, and visceral malformations

Aphalangy of the hands and feet, hemivertebrae, and visceral malformations, Aphalangy with Hemivertebrae
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)


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