Cardiofaciocutaneous Syndrome

Introduction: Cardiofaciocutaneous Syndrome

Cardiofaciocutaneous Syndrome: A rare genetic disorder characterized by short stature, congenital heart defects skin anomalies and frontal bossing. More detailed information about the symptoms, causes, and treatments of Cardiofaciocutaneous Syndrome is available below.

Symptoms of Cardiofaciocutaneous Syndrome

• Mental retardation
• Reduced muscle tone
• Nystagmus
• Strabismus
• Brain anomalies

See full list of 35 symptoms of Cardiofaciocutaneous Syndrome

Home Diagnostic Testing

Home medical testing related to Cardiofaciocutaneous Syndrome:

• High Blood Pressure: Home Testing
  • Home Blood Pressure Tests
  • Home Blood Pressure Monitors
  • Home Heart Tests
• Heart Health: Home Testing:
  • Heart Rate Monitors
  • Irregular Heartbeat Detection
  • Heart Electrocardiogram (ECG)
  • Home Cholesterol Tests

Less Common Symptoms of Cardiofaciocutaneous Syndrome

• Small head
• Seizures
• Abnormal EEG
• Excessive muscle tone
• Hearing loss

See full list of 10 occasional symptoms of Cardiofaciocutaneous Syndrome

Wrongly Diagnosed with Cardiofaciocutaneous Syndrome?

• Misdiagnosis of Cardiofaciocutaneous Syndrome

Misdiagnosis and Cardiofaciocutaneous Syndrome

Heart attacks can be undiagnosed: Although the most severe symptoms of heart attack are hard to miss, there are varying degrees of severity. It is altogether too common for people to die from undiagnosed...read more »

Heart attacks can be overdiagnosed: Although many people die from heart attacks, there are also many cases where people fear that they have a heart attack, but actually have something milder. Some...read more »

Rare heart condition often undiagnosed: The rare heart condition called long QT syndrome can lead to episodes of palpitations and rapid heartbeat. In rare cases, this undiagnosed condition can be fatal. It should...read more »

Heart attack can be over-diagnosed: Although heart attack is often undiagnosed, leading to fatality, it can also be over-diagnosed. People become concerned...read more »

Blood pressure cuffs misdiagnose hypertension in children: One known misdiagnosis issue with hyperension, arises in relation to the simple equipment used to test blood pressure. The "cuff" around...read more »

Hypertension misdiagnosis common in children: Hypertension is often misdiagnosed in adults (see misdiagnosis of hypertension), but its misdiagnosis is even more likely in...read more »

Read more about Misdiagnosis and Cardiofaciocutaneous Syndrome

Videos for Cardiofaciocutaneous Syndrome

Stories from Users Related to Cardiofaciocutaneous Syndrome

• Abnormal Head to leg growth ratio
• abnormal hair growth

User Interactive Forums

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Definitions of 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