What is Char syndrome?

What is Char syndrome?

• Char syndrome: A very rare genetic disorder characterized mainly by an unusual facial appearance, abnormal little fingers and a heart abnormality.

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

Char syndrome: Introduction

Types of Char syndrome:

Broader types of Char syndrome:

• Genetic conditions
• HEad conditions
• Heart conditions
• Chest conditions
• Circulatory system conditions
• Hand conditions
• Limb conditions
• Congenital conditions - physical defects
• Congenital conditions
• more types...»

How serious is Char syndrome?

Complications of Char syndrome: see complications of Char syndrome

What causes Char syndrome?

Causes of Char syndrome: see causes of Char syndrome

What are the symptoms of Char syndrome?

Symptoms of Char syndrome: see symptoms of Char syndrome

Complications of Char syndrome: see complications of Char syndrome

Char syndrome: Testing

Diagnostic testing: see tests for Char syndrome.

Misdiagnosis: see misdiagnosis and Char syndrome.

How is it treated?

Doctors and Medical Specialists for Char syndrome: Medical Geneticist ; see also doctors and medical specialists for Char syndrome.
Treatments for Char syndrome: see treatments for Char syndrome
Research for Char syndrome: see research for Char syndrome

Name and Aliases of Char syndrome

Main name of condition: Char syndrome

patent ductus arteriosus [facial dysmorphism - abnormal fifth digits], CHAR, Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits

CHAR, Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

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