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What is Kozlowski-Celermajer syndrome?

What is Kozlowski-Celermajer syndrome?

  • Kozlowski-Celermajer syndrome: A rare disorder characterized by congenital heart disease and spine and upper arm bone abnormalities.

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

Kozlowski-Celermajer syndrome: Introduction

Types of Kozlowski-Celermajer syndrome:

Broader types of Kozlowski-Celermajer syndrome:

How serious is Kozlowski-Celermajer syndrome?

Complications of Kozlowski-Celermajer syndrome: see complications of Kozlowski-Celermajer syndrome

What causes Kozlowski-Celermajer syndrome?

Causes of Kozlowski-Celermajer syndrome: see causes of Kozlowski-Celermajer syndrome

What are the symptoms of Kozlowski-Celermajer syndrome?

Symptoms of Kozlowski-Celermajer syndrome: see symptoms of Kozlowski-Celermajer syndrome

Complications of Kozlowski-Celermajer syndrome: see complications of Kozlowski-Celermajer syndrome

Kozlowski-Celermajer syndrome: Testing

Diagnostic testing: see tests for Kozlowski-Celermajer syndrome.

Misdiagnosis: see misdiagnosis and Kozlowski-Celermajer syndrome.

How is it treated?

Doctors and Medical Specialists for Kozlowski-Celermajer syndrome: Neonatologist, Cardiologist ; see also doctors and medical specialists for Kozlowski-Celermajer syndrome.
Treatments for Kozlowski-Celermajer syndrome: see treatments for Kozlowski-Celermajer syndrome

Name and Aliases of Kozlowski-Celermajer syndrome

Main name of condition: Kozlowski-Celermajer syndrome

Other names or spellings for Kozlowski-Celermajer syndrome:

Humero-spinal dysostosis with congenital heart disease, Humerospinal dysostosis
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

 

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