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What is Thrombocytopenia -- Robin sequence?

What is Thrombocytopenia -- Robin sequence?

  • Thrombocytopenia -- Robin sequence: A very rare syndrome characterized by a variety of abnormalities such as short stature, unusual hair, reduced blood platelets, heart defects and tooth enamel anomaly.

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

Thrombocytopenia -- Robin sequence: Introduction

Types of Thrombocytopenia -- Robin sequence:

Broader types of Thrombocytopenia -- Robin sequence:

What causes Thrombocytopenia -- Robin sequence?

Causes of Thrombocytopenia -- Robin sequence: see causes of Thrombocytopenia -- Robin sequence

What are the symptoms of Thrombocytopenia -- Robin sequence?

Symptoms of Thrombocytopenia -- Robin sequence: see symptoms of Thrombocytopenia -- Robin sequence

Thrombocytopenia -- Robin sequence: Testing

Diagnostic testing: see tests for Thrombocytopenia -- Robin sequence.

Misdiagnosis: see misdiagnosis and Thrombocytopenia -- Robin sequence.

How is it treated?

Doctors and Medical Specialists for Thrombocytopenia -- Robin sequence: Medical Geneticist, Hematologist ; see also doctors and medical specialists for Thrombocytopenia -- Robin sequence.
Treatments for Thrombocytopenia -- Robin sequence: see treatments for Thrombocytopenia -- Robin sequence

Name and Aliases of Thrombocytopenia -- Robin sequence

Main name of condition: Thrombocytopenia -- Robin sequence

Other names or spellings for Thrombocytopenia -- Robin sequence:

Braddock-Carey syndrome, Congenital thrombocytopenia, Robin sequence, agenesis of the corpus callosum, distinctive facies and developmental delay

Braddock Carey syndrome, Congenital thrombocytopenia, Robin sequence, agenesis of the corpus callosum, distinctive facies and developmental delay
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

 

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