Comprehensive Guide to Cardiofaciocutaneous Syndrome

Cardiofaciocutaneous syndrome is a very rare genetic disease. It is characterized by the occurrence of a variety of physical and mental impairments. The disease can only be treated symptomatically.

What is cardiofaciocutaneous syndrome?

The cause of the cardiofaciocutaneous syndrome is not yet known. However, a gene mutation is assumed.

Cardiofaciocutaneous syndrome is characterized by multiple physical malformations and mental developmental delays. Not much is known about this disease. There are always sporadic cases. Not much can be said about the prevalence either. About 80 to 100 children with this syndrome are known to date. The disease was first described by JF Reynolds in 1986. See AbbreviationFinder for abbreviations related to Cardiofaciocutaneous Syndrome.

As the name suggests, the heart, face and skin are marked by malformations. An autosomal dominant inheritance of this disease is suspected. So far, however, no cases of the disease have been found in the families of those affected, so that a spontaneous mutation is assumed. It is not yet possible to say whether it is a uniform disease. The syndrome has many similarities to Noonan or Costello syndrome.

However, these are precisely defined diseases from which the cardiofaciocutaneous syndrome must be distinguished in a differential diagnosis. Both Noonan and Costello syndrome are characterized by complex malformations of multiple organs and parts of the body. Most notably, both syndromes also involve the heart and skin.

A Noonan or Costello syndrome has already been diagnosed several times for the cardiofaciocutaneous syndrome, although the diagnosis had to be revised years later, even by experienced doctors.


As already mentioned, the cause of the cardiofaciocutaneous syndrome is not yet known. However, a gene mutation is assumed. There is even the assumption that several mutations in different genes lead to this disease. In this case it would not be a uniform disease.

However, the similar symptoms make the syndrome appear as a unified disease. It is only assumed that there is a spontaneous mutation of an as yet unidentified gene. What all cases had in common was that no similar illness had ever occurred in the families.

Symptoms, Ailments & Signs

The cardio-facio-cutaneous syndrome has a large number of malformations. A psychomotor retardation is noticeable. Furthermore, nutritional problems occur, which in some cases necessitate artificial nutrition. Short stature occurs as a result of the nutritional disorder. The face is abnormal and there is microencephaly.

Eyebrows are absent, with scalp hair appearing sparse and thin. The main symptoms also include the heart defect. There is pulmonary stenosis, an atrial septal defect, and myotropic cardiomyopathy. Pulmonary stenosis is characterized by narrowings that impede the flow of blood from the right ventricle to the pulmonary artery.

The atrial septal defect manifests itself as a hole in the cardiac septum. In myotropic cardiomyopathy, the musculature of the left ventricle is asymmetrically thickened. The skin changes appear in the form of fish scale skin, also known as ichthyosis. Foot deformities also occur.

This leads to polydactyly and syndactyly. On the one hand, the number of toes is increased. On the other hand, adhesions of different toes can also be seen. Mental development is limited. However, school support is possible.

Diagnosis & course of disease

Diagnostically, the cardiofaciocutaneous syndrome is difficult to differentiate from Noonan or Costello syndrome. The symptoms are very similar. In both of the latter syndromes, however, the triggering genetic defect is known. Genetic tests can at least rule out these two syndromes in the differential diagnosis. Even experienced physicians have difficulties in classifying the cardiofaciocutaneous syndrome.

As a result of this study, reference can only be made to the currently undefined disease. It is not even clear whether there are several different syndromes with the same symptoms. Prenatal examinations are also possible if an abnormal development is suspected. Ultrasound examinations and a so-called amniocentesis (amniotic fluid examination) are used for this purpose.


This syndrome leads to various disorders and impairments in the patient, which have a very negative effect on the quality of life of the person concerned. As a rule, the patient’s everyday life is also significantly restricted, so that he may be dependent on the help of other people in everyday life. In most cases, there are mental and motor disorders.

Children in particular can be affected by bullying or teasing. It is not uncommon for short stature to occur. Those affected suffer from a heart defect, which can significantly reduce life expectancy. Eating disorders are also not uncommon, which can lead to deficiency symptoms. Malformations can also occur on the extremities, which make it significantly more difficult for the person concerned to move.

A causal treatment of this syndrome is not possible, so only the symptoms can be treated. Although there are no further complications, the patient’s life expectancy can be significantly reduced by the disease. The language development of those affected can also be restricted by the syndrome, so that there are problems in everyday life. In many cases, the child’s parents also need psychological treatment.

When should you go to the doctor?

Cardiofaciocutaneous syndrome is usually diagnosed immediately after birth. After the type and severity of the symptoms have been clarified, treatment begins. The disorders and malformations are treated by cardiologists, speech therapists, orthopedists and a large number of other doctors. The parents should contact the pediatrician and consult other doctors in consultation with them in order to enable close-meshed therapy.

If unusual symptoms develop during the course of the disease, such as refusal to eat or pain, the doctor responsible must be consulted. The parents should also involve a therapist to ensure that the child does not develop mental illnesses. Parents of children with the syndrome often seek therapeutic support as well. The children usually need medical and therapeutic support throughout their lives. For this reason, the treatment must be continued as uninterrupted as possible. The exact time when a doctor needs to be consulted should be agreed with the doctor on an individual basis, always with regard to the state of health of the person concerned.

Treatment & Therapy

Cardiofaciocutaneous syndrome can only be treated symptomatically. Due to the genetic cause, causal treatment is not possible. Therapy prioritizes the individual symptoms with the most serious effects. It is therefore necessary to constantly monitor the activity of the heart in regular examinations. If necessary, surgical interventions must be undertaken.

Furthermore, constant antibiotic prophylaxis is required due to the cardiomyopathy. The nutritional problems often make artificial feeding necessary. In some cases, a so-called gastrostomy is unavoidable. This is an artificial mouth of the stomach on the abdominal wall. From there, a probe can then be inserted for feeding.

Normal nutrition is not possible due to a constantly existing inadequate sucking reflex, frequent vomiting, reflux and stomach paralysis (gastroparesis). Due to ichthyosis, constant skin care with greasing, hydrating and keratolytic creams or ointments is required. The motor and mental development disorders can be treated through special educational measures.

Appropriate occupational and speech therapy is also important in this context. The children can understand more than is generally assumed. However, language development is underdeveloped. Therefore, communication is mainly non-verbal. No statements can yet be made about the prognosis of this disease. Of course, this differs from case to case.

Outlook & Forecast

Doctors describe the prognosis of the cardiofaciocutaneous syndrome as very unfavorable. The patient suffers from a genetic disease which, despite all efforts, cannot be cured according to the current medical and legal status. Human genetics must not be modified by researchers, scientists or medical professionals. The law is clear in this regard. Because of this, doctors focus on relieving the symptoms that are present.

The extent of the respective complaints must be assessed individually. Then there are the possible treatment measures. Due to the initial situation, the goal of the various therapies that are used is not the recovery of the patient. The focus is on improving quality of life and well-being. The sooner a therapy is applied, the more successful the results are in many areas. In the case of cognitive limitations in particular, early support helps to improve school performance. This represents a significant improvement in coping with everyday life.

Since the disease is associated with a large number of restrictions in everyday life, there is a risk of sequelae in many cases. The mental stress is often so severe for the patient and their relatives that mental illness can occur. The prognosis usually takes into account the possibility of sequelae and must be made according to the individual development of the patient.


Prevention of this disease is not possible. Because it is a sporadic genetic defect that has not yet been verified. Preventive measures refer to the treatment of nutritional disorders and heart problems to avoid serious complications.


In the case of this disease, the aftercare measures are in most cases very limited or are not available to the person affected. This is usually because it is a genetic disease that cannot be completely cured. Therefore, the affected person should consult a doctor as soon as the first signs and symptoms of the disease appear, so that the symptoms do not worsen further.

If you wish to have children, a genetic examination and counseling is also highly recommended so that the disease does not recur in the children. In most cases, those affected have to take various medications to relieve and limit the symptoms. It is always important to ensure that it is taken regularly with the correct dosage.

In the case of children, it is primarily the parents who should monitor the correct intake. Intensive therapy and support for children at a young age is also required so that they can develop normally. Speech therapy is often necessary, and many of the exercises from such therapy can also be repeated at home. The skin of the affected person must be greased permanently to relieve the discomfort.

You can do that yourself

Patients with cardiofaciocutaneous syndrome suffer not only from physical disabilities but also from mental retardation. Therefore, it is mainly the parents or guardians of the affected person who contribute to improving the quality of life of the patient beyond childhood. This includes regular visits by various medical specialists who monitor the development and general health of the patient. In addition, the parents receive important information about the care, support and support of the patients.

The disease can basically only be treated symptomatically, so that patients and parents make sure that they take all medicines on time. In addition, physiotherapy is well suited to train the patient’s motor skills. Certain exercises can also be carried out by child patients at home under the supervision of the guardians.

The degree of mental retardation differs for each person affected, but it makes sense to attend a special educational facility for children with disabilities. There the patient receives educational support tailored to his or her intellectual abilities. In addition, the social contacts usually have a positive effect on the well-being and state of health of the patient. For the parents, however, the disease represents an outstanding burden, so that psychotherapy is recommended.


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