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What is Cardiofaciocutaneous Syndrome?

What is Cardiofaciocutaneous Syndrome?

  • Cardiofaciocutaneous Syndrome: A rare genetic disorder characterized by short stature, congenital heart defects skin anomalies and frontal bossing.
  • Cardiofaciocutaneous Syndrome: A congenital anomaly/mental retardation syndrome marked by heart defects, characteristic facies, ectodermal abnormalities, and growth failure. CFC and Noonan syndromes are sometimes considered the same entity
    Source - Diseases Database

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

Cardiofaciocutaneous Syndrome: Introduction

Types of Cardiofaciocutaneous Syndrome:

Broader types of Cardiofaciocutaneous Syndrome:

How serious is Cardiofaciocutaneous Syndrome?

Complications of Cardiofaciocutaneous Syndrome: see complications of Cardiofaciocutaneous Syndrome

What causes Cardiofaciocutaneous Syndrome?

Causes of Cardiofaciocutaneous Syndrome: see causes of Cardiofaciocutaneous Syndrome

What are the symptoms of Cardiofaciocutaneous Syndrome?

Symptoms of Cardiofaciocutaneous Syndrome: see symptoms of Cardiofaciocutaneous Syndrome

Complications of Cardiofaciocutaneous Syndrome: see complications of Cardiofaciocutaneous Syndrome

Cardiofaciocutaneous Syndrome: Testing

Diagnostic testing: see tests for Cardiofaciocutaneous Syndrome.

Misdiagnosis: see misdiagnosis and Cardiofaciocutaneous Syndrome.

How is it treated?

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

Name and Aliases of Cardiofaciocutaneous Syndrome

Main name of condition: Cardiofaciocutaneous Syndrome

Other names or spellings for Cardiofaciocutaneous Syndrome:

CFC syndrome, Congenital heart defects, characteristic facial appearance, ectodermal abnormalities, and growth failure

CFC syndrome, Reynolds-Neri-Herrmann syndrome Source - Diseases Database

CFC syndrome, Congenital heart defects, characteristic facial appearance, ectodermal abnormalities, and growth failure
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Cardiofaciocutaneous Syndrome: Related Conditions

Research the causes of these diseases that are similar to, or related to, Cardiofaciocutaneous Syndrome:

 

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