Cardiofaciocutaneous syndrome is a rare type of genetic disorder which affects various areas of the body, especially the heart, face, and skin. Moderate to severe developmental delays and intellectual deficiencies are also common among those with this disorder. A genetic mutation is responsible for the development of cardiofaciocutaneous syndrome, although this condition is not hereditary. There is no cure for this disorder, and treatment is aimed at specific symptoms, sometimes requiring the use of prescription medications or surgical intervention. Any specific or individualized questions or concerns about cardiofaciocutaneous syndrome should be discussed with a doctor or other medical professional.
A spontaneous genetic mutation is responsible for the development of cardiofaciocutaneous syndrome. This means that there are no hereditary factors involved. Instead, one or more genes do not develop properly during the fetal stage of development. A person born with this condition does not have an increased chance of passing it along to future children.
Cardiac problems are a common part of cardiofaciocutaneous syndrome and may take on several forms. The artery which travels from the heart to the lungs is often narrow, and there may be one or more holes in the heart. In some cases, the heart muscle itself is significantly larger than normal. In many cases, surgical intervention is necessary in order to repair any heart defects which are present before serious complications arise.
Facial deformities or abnormalities are typically present in cardiofaciocutaneous syndrome. The head or forehead may appear larger than normal, or the eyelids may appear droopy. The eyes may be spaced apart more than usual, and a variety of vision problems may develop. Scaly skin, eczema, and brittle hair are frequently reported symptoms of this disorder as well.
Additional complications related to cardiofaciocutaneous syndrome may include gastrointestinal disturbances such as nausea, constipation, or the development of a hernia. Neurological issues such as seizures or brain abnormalities may occur in those with this medical condition. Birth weight is often normal among those born with this disorder, although growth retardation may become apparent later in infancy or early childhood.
Medications or surgical intervention may become necessary treatment options, depending upon the type and severity of individual symptoms. Regular visits to the doctor are important so that any changes in the health of the patient can be detected as early as possible. Milder issues may be able to be successfully treated with the use of over the counter or prescription medications. More severe complications, such as heart defects, may require the use of surgical intervention in order to preserve the life of the patient.
