Carey-Fineman-Ziter syndrome is a malformation syndrome characterized by decreased muscle tone and is inherited in an autosomal recessive manner. Since only 20 cases have been documented since the initial description, the cause of the disorder has not yet been determined. A causal therapy for the syndrome does not yet exist.
What is Carey-Fineman ziter syndrome?
There is a group of congenital malformation syndromes characterized predominantly by facial involvement. One disorder in this group of disorders is Carey-Fineman-Ziter syndrome. The symptom complex is also known as myopathy-Moebis-Robin syndrome and is extremely rare. Medical science suspects only one case in one million people. Toward the end of the 20th century, Carey, Fineman, and Ziter first described the symptom complex of decreased muscle tone, bilateral facial paralysis, and disturbance of eye abduction. The syndrome is thus named in honor of its first descriptors. To date, only a few cases of Carey-Fineman-Ziter syndrome have been documented since its initial description. Detailed data are available on fewer than 20 cases. For this reason, the state of research is not fully developed. Many correlations and especially the causes of the symptom complex have not yet been conclusively clarified. The symptoms of Carey-Fineman-Ziter syndrome have a wide range of clinical characteristics and are present from birth.
Causes
Carey-Fineman-Ziter syndrome does not appear to occur sporadically. A hereditary basis has been observed in previous cases. An autosomal recessive inheritance appears to underlie the familial clustering of the syndrome. Of the existing cases, two cases were sibling pairs. However, the recurrence risk for parents with an affected child in relation to siblings is less than 25 percent. The symptom complex of affected individuals appears to be caused by malformations in peripheral and central nervous tissue. In particular, decreased muscle tone has now been causally linked to nonspecific myopathic anomalies and central brain malformation. The primary causes of these malformations have not yet been elucidated. At present, we can only speculate about a genetic mutation following exposure to toxins, trauma or similar influencing factors. Just as little as the primary causes, it has not yet been possible to identify the genes whose mutation is causative for the malformations.
Symptoms, complaints, and signs
The clinical characteristics of patients with Carey-Fineman-Ziter syndrome include severely reduced muscle tone in the sense of muscle hypotonia, as well as the so-called Moebius sequence and Pierre-Robin sequence. The former phenomenon is a congenital and bilateral paralysis of the facial nerve fascialis, which is accompanied by an impaired abduction of both eyeballs. Pierre-Robinson sequence, on the other hand, is a microgeny associated with glossoptosis, an extremely high palate, and cleft palate. In addition to these symptoms, patients with Carey-Fineman-Ziter syndrome have an extremely prominent face. Growth retardation rounds out the symptom complex. Accompanying symptoms may include various abnormalities of the brain. The abnormalities sometimes correspond to ventriculomegaly. In other cases, white matter is reduced or heterotypies and small foci of necrosis with calcifications are present. Equally often, abnormalities such as a reduced bridge and brainstem with hyperplastic ponto-cerebellar and pre-pontine cisterns have been detected in the patients’ brains. In addition, patients often suffer from Poland syndrome. Hypospadias or clubfoot are equally common. Patients with nonspecific myopathy may develop severe scoliosis in the course. Laryngostenosis or a tendency to unexplained hypertensive crises with a flushed face and sweating may also constitute the syndrome. In some cases, hydronephrosis has also been observed. Mentally, patients are not retarded in most cases, but a decrease in intelligence has been observed in isolated cases. Rarely, gastrointestinal disturbances are also present, which may be associated with villous atrophy.
Diagnosis and course
The diagnosis of Carey-Fineman-Ziter syndrome can be informed by a tentative diagnosis already by visual diagnosis, as the clinical symptoms are extremely characteristic. Magnetic resonance imaging is usually used to provide evidence of the brain abnormalities and to confirm the tentative diagnosis in this way. The prognosis depends on the severity in each individual case. A lethal course is conceivable, but in principle not the rule. In the past, lethal consequences were mainly secondary diseases such as restrictive lung disease.
Complications
Unfortunately, it is not possible to treat Carey-Fineman-Ziter syndrome, so the patient must live with the malformations for the rest of his or her life. Therefore, it is only possible to limit the symptoms so that the affected person’s quality of life increases. The malformations usually cause severe paralysis of the face, in which the eyeballs are also affected. Likewise, there is delayed growth in children. In many cases, patients experience unfounded sweating with severe facial redness. The malformations can lead to teasing and bullying, especially in children, which can also result in depression. In rare cases, intelligence is also affected, so that the children suffer from underdevelopment and thus retardation. This is not reversible, which means that in many cases the patient is dependent on outside help. Since no direct treatment of the Carey-Fineman-Ziter syndrome is possible, the therapy is mainly aimed at the movement restrictions. The speech defects can also be taken care of by a speech therapist, so that the affected person can communicate unhindered. The treatment itself does not lead to any further complications. In many cases, the parents are also under a great deal of psychological strain.
When should one go to the doctor?
In Carey-Fineman-Ziter syndrome, a visit to a doctor is necessary when the affected person shows muscle atrophy or cannot produce muscle tension. Usually, these symptoms become noticeable in early childhood, so in this case it is primarily the parents who need to investigate and initiate treatment. Paralysis in various parts of the body and especially in the face must also be examined. Furthermore, a cleft palate can also indicate Carey-Fineman-Ziter syndrome. The children suffer from delayed growth and also delayed development. In this case, the affected persons have to be specially supported in order to be able to lead an ordinary life in adulthood. A visit to the doctor is also necessary in case of intelligence reduction. The diagnosis is usually made by a pediatrician or by a general practitioner. Since a direct treatment is not possible, the affected person is dependent on various therapies. In many cases, the parents or relatives also suffer from psychological complaints, so they need psychological treatment.
Treatment and therapy
Since neither the primary causes nor the genetic factors of Carey-Fineman-Ziter syndrome have been clarified to date, no causal therapy exists for those affected. The complex of symptoms can only be treated symptomatically. Therapy is thus based on the symptoms present in the individual case. In one case, for example, the scoliosis of an adolescent patient was treated by implanting a rod. In the case of intelligence deficiencies, early intervention to correct the deficiencies may be considered. Facial paralysis can cause speech disorders that can be improved with speech therapy. Decreased muscle tone may require physical therapy care and may be compensated for by targeted muscle training. Supportive therapy options primarily require close collaboration with the parents of affected children. Psychotherapeutic care may be recommended to the parents to support them and help them come to terms with their experiences. Genetic counseling for parents may also be useful to educate them about the risk of recurrence in future children.
Outlook and prognosis
Because Carey-Fineman-Ziter syndrome results in a number of malformations and deformities due to genetic defects, they can only be treated symptomatically. Causal and causative treatment cannot be performed in this case.Those affected also suffer from a severe delay in growth and child development. Furthermore, paralysis and reduced intelligence occur, so that the affected person is dependent on the help of other people for the rest of his or her life. Speech therapy and physical therapy can alleviate some of the symptoms and improve the quality of life of the affected person. However, a complete cure is not achieved. Carey-Fineman-Ziter syndrome does not usually have a negative effect on life expectancy. For parents, genetic counseling may be useful to prevent the syndrome from recurring in another child. Often, the syndrome also leads to psychological upsets or even depression in the parents and relatives. The therapy itself is adapted to the individual case of Carey-Fineman-Ziter syndrome, since the symptoms can be very different. Loving support of the patient has a positive effect on the course of the disease in any case.
Prevention
To date, not enough cases of Carey-Fineman-Ziter syndrome have been documented to determine the primary causes of the disease beyond doubt. Because the causes are unknown, no preventive measures exist at this time.
Follow-up
Because Carey-Fineman-Ziter syndrome is a genetic disorder, a complete cure is usually not possible. For this reason, direct follow-up cannot be provided for this disorder. However, those affected are dependent on lifelong therapy to alleviate the symptoms and thus maintain a certain quality of life. The delayed development can be treated by intensive support of the patient. Parents and relatives of the patient are especially called upon to support the child in its development. The reduced intelligence can also be alleviated in this way. As a rule, however, those affected are always dependent on outside help in their daily lives and cannot easily master them on their own. Since Carey-Fineman-Ziter syndrome can also lead to psychological complaints or upset, psychological counseling and treatment are also recommended. Parents and relatives can also participate in this treatment, as they also suffer from the consequences of Carey-Fineman-Ziter syndrome. If the patient wishes to have more children, genetic counseling can be performed so that the recurrence of Carey-Fineman-Ziter syndrome can possibly be avoided. The patient’s life expectancy is usually not negatively affected by the disease.
Here’s what you can do yourself
Carey-Fineman-Ziter syndrome is an extremely rare disease. According to current knowledge, neither conventional medicine nor the patient himself can take measures to combat the disease causally. Because the disorder is most likely inherited, couples with a family history of the syndrome should seek counseling before planning a family. The symptoms of Carey-Fineman-Ziter syndrome are apparent from birth. Affected individuals suffer primarily from their unusual external appearance and decreased muscle tone, which often limits movement and motor skills. The latter can often be positively influenced by physiotherapy, which is more successful the earlier it is started. Parents should therefore insist that their child receives optimal support as early as possible. This also applies to impairments in speech development, which is usually due to the facial paralysis typical of the syndrome. Therefore, if possible, a speech therapist should be consulted as soon as the patient begins to learn to speak. Suitable speech therapy can compensate for the impairments caused by the muscle paralysis. The disease is usually equally demanding for parents and children, and in addition to the symptoms of the disorder, the reactions of those around them can be enormously stressful. Children who are teased by peers because of their appearance and speech impairment can quickly develop depression. Parents should therefore seek professional psychological care for their child, and themselves if necessary, at an early stage.
