The C syndrome is a rare MCA / MR syndrome and is therefore associated with multiple congenital malformations and reduced intelligence. The exact causes of the syndrome are not fully understood, as only 40 cases have been described so far. Treatment is only symptomatic, with the parents usually being provided with a psychologist.
What is C Syndrome?
According to DigoPaul, syndromes are recurring combinations of clinically similar symptoms, most of which can be traced back to the same cause. Medicine knows numerous types of this. One of them is called the so-called MCA / MR syndrome. What all MCA / MR syndromes have in common is symptoms such as multiple congenital abnormalities and mental retardation.
Jacobsen syndrome is the best-known syndrome from this group. Less well known is C syndrome, the prevalence of which is estimated at a frequency of one to nine in a million. The clinical picture is also referred to in the medical literature as OTCS, Opitz-C-Trigonocephaly, Opitz-Trigonocephaly-C-Syndrome as well as Opitz-Trigonocephaly-Syndrome, Trigonocephaly-C-Syndrome or Trigonocephalus-Syndrome type Opitz.
In 1969 John Marius Opitz first described the syndrome together with colleagues Johnson, McCredie and Smith. The case report focused on two siblings whose external peculiarities indicated the presence of a syndrome. So far, the C syndrome has not been conclusively researched. Around 40 cases have been described so far. A major focus of current research is focused on specifying a phenotype.
The C syndrome was documented in the first description of a pair of siblings, which speaks in favor of familial accumulation. However, most cases appear to be sporadic. Inheritance is usually not applicable. Since the phenotypic manifestation of the syndrome appears to be extremely variable, different causes are assumed for the cases documented so far.
Due to the lack of clarification in the context of the characteristic phenotype, it remains unclear whether the cases described as C syndrome are actually patients with the same disease. Under certain circumstances, different diseases have been described as C syndrome so far. A chromosome aberration was found in some of the documented patients.
This abnormality in the genetic material could be the cause of C syndrome. On the other hand, microdeletions were documented in still other cases. In addition, exogenous research into the causes of the C syndrome suggests a connection with valproate syndrome. Germ cell mosaics are also discussed as a cause.
Symptoms, ailments & signs
Patients with C syndrome can suffer from clinically fundamentally different symptoms. The documented facial anomalies include mongoloid eyelid axes, thick epicanthic folds and capillary hemangioma on the forehead midline, for example, strabismus, a flat bridge of the nose, a short or thick nasal septum as well as broad columella, a flat philtrum and narrow red lips.
Microgenius, a high and narrow palate, cheek frenula and gingival frenula, and malformed ears or cleft palates have also been reported. Often the patient’s neck appears shortened, especially due to the neck hygroma. Skeletal anomalies such as short rhizomelic or acromelic limb segments, a hypermobile elbow including crepitations, polydactyly or syndactyly as well as coccyx dimples or deformed thoracic regions seem to be the rule.
These malformation syndromes are usually associated with mental retardation. However, patients with average IQ were also documented. Cerebral cramps have been reported in isolated cases. Hernias, genital anomalies, anal defects and cardiovascular peculiarities can be present, as can kidney dystrophy or renal agenesis.
Diagnosis & course
The diagnosis of C syndrome is made on the basis of the clinical picture. The first suspected diagnosis can be confirmed to some extent by findings from cerebral MRI, echocardiogram and ultrasound examination. Syndromes such as Smith-Lemli-Opitz syndrome are to be distinguished from the differential diagnosis.
A prenatal diagnosis of the C syndrome is theoretically possible by means of malformation ultrasound. However, prenatal growth is largely normal. Only symptoms such as severe kidney malformations and oligohydramnios in the pregnant woman suggest abnormalities. The prognosis for patients with C syndrome is relatively poor. The mortality is estimated at around 50 percent due to the multiple organ malformations.
The C syndrome leads to various deformities or malformations in the patient. As a rule, the patient’s intelligence is also negatively influenced by the C syndrome, so that mental retardation occurs. It is not uncommon for them to then rely on the help of other people in order to be able to cope with everyday life.
As a rule, the parents are also psychologically affected by the C syndrome and suffer from severe depression and other psychological complaints, which is why treatment by a psychologist is necessary. The patient suffers from a cleft palate due to the syndrome. Furthermore, there are anomalies on the skeleton and thus a possible restriction of movement. The quality of life of the person affected is severely restricted by the syndrome.
Kidney problems and genital abnormalities also occur. It is not uncommon for heart defects to develop that, if left untreated, can lead to cardiac death. The treatment of C syndrome cannot be causal. Certain malformations and complaints can be treated with therapies and surgical interventions. However, life expectancy is greatly reduced by the syndrome. Without treatment, the patient dies prematurely.
When should you go to the doctor?
In most cases, C syndrome is diagnosed before birth or immediately after birth, so that a new diagnosis is usually no longer necessary. However, the doctor should be seen to treat the malformations and symptoms. If the person concerned suffers from eye problems or a squint, the ophthalmologist should be consulted. If these symptoms are discovered and corrected early on, further complications in the eyes can be prevented. Medical treatment and advice is also necessary for malformations on the body or face.
Parents should also consult a doctor if the child suffers from psychological complaints or depression as a result of C syndrome. Special support is also necessary for people with reduced intelligence. If the patient has convulsions, these should also be examined. Diseases of the kidneys in particular often occur, so that this region must be examined particularly closely. The treatment of other complaints depends largely on their severity and usually consists of various surgical interventions and therapies.
Treatment & Therapy
A causal therapy is currently not available for patients with C syndrome. The disease is currently incurable. Not only have the causes not yet been sufficiently clarified to develop a causal therapy.
The causes are also presumably in the genes, so that only the approval of gene therapy approaches could enable a causal treatment at all. The patients are currently treated symptomatically and supportively. The treatment of the vital organs is the focus of the therapy.
Invasive procedures must be used to correct heart defects, kidney malformations, and malformations of the thoracic region to ensure the patient’s viability. Once the life-threatening symptoms have been corrected, the other malformations can be treated with plastic surgery. If necessary, early intervention can be used to counteract the mental retardation.
The parents of the patients also receive supportive measures. For example, you will be supported in dealing with your child’s illness. This support usually consists of the provision of a psychotherapist or psychologist. In addition, the relatives receive genetic counseling. Based on the documented sibling cases, parents of a C syndrome patient are recommended for all subsequent pregnancies with malformation ultrasound.
Outlook & forecast
The treatment of C syndrome proves to be difficult in most cases, as only very few cases of this disease are known to date. Due to the genetic defect, the symptoms can only be treated symptomatically, although causal treatment cannot take place.
A complete cure of the syndrome does not occur for this reason. Even with treatment, the reduced intelligence cannot usually be completely resolved, so that the person affected is dependent on intensive therapy. Furthermore, the patients are always dependent on help in their everyday life and usually cannot cope with everyday life on their own.
The various malformations on the body and organs can be corrected by surgical interventions. There are generally no further complications. Whether the patient’s life expectancy is reduced as a result of the C syndrome depends to a large extent on the success of the treatment and the severity of the malformations. The organs cannot always be corrected in such a way that life expectancy remains unchanged.
Because C syndrome is a genetic disorder, parents should undergo genetic counseling to avoid recurrence of the syndrome.
The causes of C syndrome have not yet been sufficiently clarified to be able to develop promising preventive measures. The only way to prevent this at the moment is an ultrasound of the malformation.
With this type of sonography, couples cannot, but largely, assure themselves that their unborn child does not suffer from syndromes. If the ultrasound suggests a syndrome, you can decide against the child.
After the various malformations of the skull, bones, and joints have been surgically corrected, the patient must attend regular medical follow-up visits. Depending on the patient’s constitution, the period between the medical check-ups can range from a few months to a few years. If no further complications arise, the follow-up examinations can be gradually reduced.
Due to the large number of possible complaints that can arise as a result of C syndrome in the course of life, regular medical clarification is necessary in every case. Any heart defects, joint contractures or hemangiomas can be quickly diagnosed and treated.
The C syndrome cannot be completely cured because there are usually too many and too severe symptoms. The patients are accordingly dependent on treatment for their entire life. Follow-up care can also include drug treatment for any pain and side effects. For severe wound healing pain, the doctor can prescribe tramadol or diclofenac, for example.
After the surgical treatment of a heart defect, the patient must see a specialist who may also have to reset the pacemaker. C syndrome can cause symptoms of varying intensity. That is why a decision about follow-up care must be made for each patient individually.
You can do that yourself
The disease of the C syndrome does not allow the sick person to take sufficient measures for self-help. Due to the symptoms present, the person affected must receive permanent care and medical care.
In everyday life, the close relatives therefore need tips and advice on how to deal with the situation well. It is important for them that they are fully informed about the disease and its symptoms. They also need advice on how to ensure optimal care for the sick person. The burden on relatives should be taken into account. A good social environment is helpful for mutual support.
So that there is no psychological overload, self-help groups or exchanges with family members of other sick people can be very helpful. Regular participation in social life should take place as a balance to care. Stress-relieving techniques can be used in order to be able to cope with the challenges ahead in everyday life.
Various relaxation methods and a healthy lifestyle support the relatives in order to have enough inner strength. Conversations or therapeutic support help to deal with the situation and ensure psychological stability. Courage to face life and a confident handling of the disease can be very useful to the sick and relatives, despite all adversities.