Cardio-facio-cutaneous syndrome is a very rare genetic disorder. It is characterized by the presence of multiple physical and mental impairments. The disease can only be treated symptomatically.
What is cardio-facio-cutaneous syndrome?
Cardio-facio-cutaneous syndrome is characterized by multiple physical malformations and mental developmental delays. Not much is known about this disease. Sporadic cases occur from time to time. Not much can be said about the prevalence either. So far, about 80 to 100 children with this syndrome are known. The disease was first described in 1986 by J. F. Reynolds. As indicated in the name, the heart, face and skin are characterized by malformations. An autosomal dominant inheritance of this disease is suspected. However, so far no cases of the disease have been found in the families of the affected persons, so that a spontaneous mutation is assumed. Whether it is a uniform disease can also not be said so far. The syndrome has many similarities to Noonan or Costello syndrome. However, these are precisely defined diseases from which the cardio-facio-cutaneous syndrome must be distinguished in a differential diagnosis. Both Noonan and Costello syndromes are characterized by complex malformations of multiple organs and body parts. Most notably, both syndromes also involve the heart and skin. Several times, Noonan syndrome and Costello syndrome, respectively, have been diagnosed for cardio-facio-cutaneous syndrome, and the diagnosis had to be revised even after years, even by experienced physicians.
Causes
The cause of cardio-facio-cutaneous syndrome, as mentioned earlier, is not yet known. However, a gene mutation is assumed. There is even a suggestion that multiple mutations at different genes lead to this disease. In this case, it would not be a uniform disease. However, the similar symptoms make the syndrome appear to be a uniform disease. It is simply assumed that there is a spontaneous mutation of a gene that has not yet been identified. All cases had in common that no similar disease had previously occurred in the families.
Symptoms, complaints, and signs
Cardio-facio-cutaneous syndrome presents with a variety of malformations. Psychomotor retardation is conspicuous. Furthermore, nutritional problems occur, necessitating artificial feeding in some cases. As a result of the nutritional disorder, short stature occurs. The face is conspicuous and there is microencephaly. The eyebrows are absent, and the hair on the head appears sparse and thin. The cardiac defect is also one of the leading symptoms. Pulmonary stenosis, atrial septal defect, and myotropic cardiomyopathy are present. Pulmonary stenosis is characterized by narrowing that obstructs blood flow from the right ventricle to the pulmonary artery. Atrial septal defect manifests as a hole in the cardiac septum. In myotropic cardiomyopathy, the muscles of the left ventricle are asymmetrically thickened. Skin lesions manifest as fish scale skin, also known as ichthyosis. Foot malformations also occur. Polydactyly and syndactyly occur. On the one hand, the number of toes is increased. On the other hand, there are also adhesions of different toes. The mental development is limited. However, scholastic advancement is possible.
Diagnosis and course of the disease
Diagnostically, cardio-facio-cutaneous syndrome is difficult to distinguish from Noonan or Costello syndrome. The symptoms are very similar. However, in both of the latter syndromes, the causative genetic defect is known. Genetic testing can thus at least exclude these two syndromes from a differential diagnosis. Even experienced physicians have difficulties in classifying the cardio-facio-cutaneous syndrome. As a result of this investigation, so far only the currently undefined disease can be referred to. It is not even clear whether there are several different syndromes with the same symptoms. Prenatal examinations are also possible in cases of suspected maldevelopment. These include ultrasound examinations and a so-called amniocentesis (amniocentesis).
Complications
As a result of this syndrome, the patient experiences various disorders and impairments that have a very negative impact on the quality of life of the affected person. As a rule, the patient’s daily life is also significantly restricted, so that he or she may be dependent on the help of other people in everyday life. In most cases, there are disturbances of the psyche and motor skills. Children in particular may be affected by bullying or teasing. It is not uncommon for short stature to occur as well. Those affected suffer from a heart defect, which can significantly reduce their life expectancy. Eating disorders are also not uncommon, which can lead to deficiency symptoms. Malformations can also occur in the extremities, which make it significantly more difficult for the affected person to move. A causal treatment of this syndrome is not possible, so that only the symptoms can be treated. Although no further complications occur, the life expectancy of the patient may be significantly reduced by the disease. The linguistic development of the affected person may also be restricted by the syndrome, resulting in discomfort in everyday life. In many cases, the child’s parents are also dependent on psychological treatment.
When should you see a doctor?
Cardio-facio-cutaneous syndrome is usually diagnosed immediately after birth. After the nature and severity of the symptoms have been clarified, treatment is given. The disorders and malformations are treated by cardiologists, speech therapists, orthopedists and a variety of other physicians. Parents should contact the pediatrician and, in consultation with him or her, consult other physicians to ensure close-meshed therapy. If unusual symptoms develop during the course of the disease, such as refusal to eat or pain, the responsible physician must be called in. Parents should also involve a therapist to prevent the child from developing mental illness. Parents of children with the syndrome often seek therapeutic support as well. The children usually need medical and therapeutic support throughout their lives. Therefore, treatment must continue without interruption if possible. When in particular a doctor must be consulted should be agreed with the doctor individually, always with regard to the health condition of the affected person.
Treatment and therapy
Treatment of cardio-facio-cutaneous syndrome can only be symptomatic. Because of the genetic cause, causative treatment is not possible. Therapy prioritizes the individual symptoms with the most severe effects. Thus, constant monitoring of cardiac activity in regular examinations is necessary. If necessary, surgical interventions must be undertaken. Furthermore, constant antibiotic prophylaxis is required due to the cardiomyopathy. The nutritional problems often necessitate artificial feeding. In some cases, among others, a so-called gastrostomy is unavoidable. This is an artificial opening of the stomach at the abdominal wall. A tube can then be inserted from there for feeding. Normal feeding is not possible due to a constantly existing inadequate sucking reflex, frequent vomiting, reflux and gastric 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 by 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 disorder. Certainly, this varies from case to case.
Outlook and prognosis
Doctors describe the prognosis of cardio-facio-cutaneous syndrome as very unfavorable. The patient suffers from a genetic disease that, despite all efforts, cannot be cured according to the current medical and legal status. Human genetics may not be altered by researchers, scientists or physicians. The law is clear in this regard. For this reason, doctors concentrate on alleviating the existing symptoms.The extent of the respective complaints must be assessed individually. The possible treatment measures are based on this. Due to the initial situation, the goal of the various therapies that are applied is not the recovery of the patient. The focus is on improving the quality of life and well-being. In many areas, the sooner a therapy is applied, the more successful the results. Particularly in the case of cognitive impairment, early intervention helps improve academic 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 secondary symptoms in many cases. The mental stress is often so severe for the patient as well as for the relatives that mental illnesses can occur. Normally, the prognosis takes into account the possibility of secondary symptoms and must be made accordingly according to the individual developments of the patient.
Prevention
Prevention from this disease is not possible. This is because it is a sporadically occurring genetic defect that, moreover, has not yet been verified. Preventive measures refer to the treatment of nutritional disorders and cardiac problems to exclude serious complications.
Follow-up
In most cases of this disease, the measures of aftercare are very limited or not available to the affected person at all. This is usually because this is a genetic disease that cannot be completely cured. Therefore, the affected person should consult a doctor at the first signs and symptoms of the disease, so that there is no further worsening of the symptoms. If the person wishes to have children, genetic testing and counseling is also highly recommended to prevent the disease from recurring in the children. In most cases, those affected must take various medications to alleviate and limit the symptoms. Care must always be taken to ensure that the medication is taken regularly and in the correct dosage. In the case of children, it is above all the parents who should check that the medication is being taken correctly. Likewise, intensive therapy and support is required for children at a young age so that they can develop normally. Speech therapy is often necessary, although many of the exercises from such therapy can also be repeated in the patient’s own home. The affected person’s skin must be permanently greased to alleviate the discomfort.
What you can do yourself
The patients with cardio-facio-cutaneous 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 help to improve the quality of life of the patients even beyond childhood. This includes regular visits to various medical specialists who monitor the development and general health of the patient. In addition, parents receive important advice regarding the care, support and encouragement of the patient. In principle, the disease can only be treated symptomatically, so patients and parents are careful to take all medications on time. In addition, physiotherapy is a good way to train the motor skills of the patient. Certain exercises can be performed by the child patients at home under the supervision of their guardians. The degree of mental retardation differs for each affected person, but it is advisable to visit a special educational institution for children with disabilities. There, the patient receives educational support tailored to his or her intellectual abilities. In addition, social contacts usually have a positive effect on the patient’s well-being and state of health. For the parents, however, the disease represents an outstanding burden, so that psychotherapy is recommended.
