Cardiofaciocutaneous Syndrome

Definition

Definition of Cardiofaciocutaneous Syndrome
Cardiofaciocutaneous syndrome is a disorder that affects many parts of the body, particularly the heart (cardio-), facial features (facio-), and the skin and hair (cutaneous). People with this condition also have delayed development and intellectual disability, usually ranging from moderate to severe.

Cardiofaciocutaneous syndrome is also characterized by distinctive facial features. These include a high forehead that narrows at the temples, a short nose, widely spaced eyes (ocular hypertelorism), outside corners of the eyes that point downward (down-slanting palpebral fissures), droopy eyelids (ptosis), a small chin, and low-set ears. Overall, the face is broad and long, and the facial features are sometimes described as "coarse.

Symptoms

Symptoms of Cardiofaciocutaneous Syndrome
The signs and symptoms of cardiofaciocutaneous syndrome overlap significantly with those of two other genetic conditions, Costello syndrome and Noonan syndrome. The three conditions are distinguished by their genetic cause and specific patterns of signs and symptoms; however, it can be difficult to tell these conditions apart in infancy. Unlike Costello syndrome, which significantly increases a person's cancer risk, cancer does not appear to be a major feature of cardiofaciocutaneous syndrome.

Causes

Causes of Cardiofaciocutaneous Syndrome
Heart defects occur in most people with cardiofaciocutaneous syndrome. The heart problems most commonly associated with this condition include malformations of one of the heart valves (pulmonic stenosis), a hole between the two upper chambers of the heart (atrial septal defect), and a form of heart disease that enlarges and weakens the heart muscle (hypertrophic cardiomyopathy).

Diagnosis

Diagnosis of Cardiofaciocutaneous Syndrome
The diagnosis of CFC syndrome is made through observations made of the known features and symptoms of the syndrome. Magnetic resonance imaging or MRI may be used to produce ultrasound imaging of the brain and heart to provide a more definitive diagnosis.

Treatment

Treatment of Cardiofaciocutaneous Syndrome
The CFC syndrome has no existing cure and treatment available. Therapies available today are purely symptomatic for symptoms of the syndrome that affects the individual. Skin care help, special education and speech therapy are among the most common treatments available. For patients suffering from tube feeding and heart defects, surgical intervention is the available option.

Prognosis

Prognosis of Cardiofaciocutaneous Syndrome
Consult with your doctor.

Prevention

Prevention of Cardiofaciocutaneous Syndrome
Consult with your doctor.