Catel-Manzke syndrome, or CATMANS, occurs relatively rarely and is sex-linked. The typical symptoms of the disease correspond to those of the so-called Pierre-Robin sequence. These include, for example, symptoms such as a cleft palate, glossotopsis, and microgenia. Another characteristic is that there are too many finger parts on the hands. In addition, the index finger is angled (medical term clinodactyly).
What is Catel-Manzke syndrome?
Catel-Manzke syndrome is synonymously called digital syndrome or Pierre Robin syndrome with deformities of the index fingers. This is a so-called dysmorphic syndrome. The name of the disorder is derived from the German physicians Catel and Manzke, who first described Catel-Manzke syndrome. The prevalence of the disorder is estimated at 1:1,000,000. Basically, Catel-Manzke syndrome is inherited to the offspring in an autosomal recessive manner. The disease primarily affects the skeleton and bones. Hyperphalangia is seen on both sides, as well as angulation of the index finger. In addition, affected patients suffer from the characteristic symptoms of the Pierre-Robert sequence. At the current time, 33 people are already known to have Catel-Manzke syndrome.
Causes
The causes of Catel-Manzke syndrome are primarily genetic. Crucial are specific mutations that occur at certain gene loci and in this way lead to the formation of the disease. Specifically, the so-called TGDS gene is affected by the mutations. This gene is located at gene locus 13q32.1.
Symptoms, complaints, and signs
Catel-Manzke syndrome is expressed by various symptoms and complaints. However, the leading symptom represents hyperphalangia on the index finger, which appears on both hands. In addition, there is a redundant bone core at the so-called metacarpo-phalangeal joint. In this way, a deviation develops on the index finger, which is mainly radial. In the majority of cases, Catel-Manzke syndrome occurs in combination with the Pierre-Robin sequence. Thus, characteristic symptoms such as microgenia and glossoptosis are seen. In addition, most patients present with cleft palate. In addition, many affected individuals suffer from malformations that have existed since birth. Possible defects are, for example, defects of the heart, such as defects of the ventricular septum or the atrial septum. Far less common are signs such as iris colobomas or deviations of facial features from the average appearance. Affected individuals often have short palpebral fissures, hypertelorism, and round cheeks. The ears are often lower than usual and sometimes turned backwards. In addition, Catel-Manzke syndrome may be associated with scoliosis, pectus excavatum and brachydactyly. Shortened toes, clubfoot, and decreased intelligence are sometimes seen. In addition, in Catel-Manzke syndrome, a redundant long bone may be present or a proximal phalange may form on the finger.
Diagnosis and course
If typical signs of Catel-Manzke syndrome appear, consultation with a specialist is recommended. In numerous cases, however, a diagnosis is possible shortly after birth because the deformed index fingers and the Pierre-Robert sequence complaints are very conspicuous and point relatively clearly to the disease. Within the framework of radiological examinations, the anomalies of the finger bones can be reliably detected. In this process, superfluous bones with the shape of trapezoids or triangles are made visible in images. These are usually located on the second metacarpal and the corresponding phalanx. Here, the bone often has an altered structure resembling cones. An epiphysis is also possible in this area. With increasing age of the affected person, the superfluous bone parts connect with the existing basic phalanx. In this way, the metacarpo-phalangeal joint may become subluxated. The performance of a thorough differential diagnosis takes a high priority. In particular, attention should be paid to other types of abnormalities of the bones. For example, temtamy-preaxial brachydactyly syndrome or Desbuquois syndrome are possible.
When should you go to the doctor?
If Catel-Manzke syndrome is suspected, a physician should be consulted. Parents who notice the typical malformations on the index finger in their child are best to clarify this immediately. Medical advice must be sought at the latest when signs of heart disease appear. Catel-Manzke syndrome usually occurs in connection with the Pierre-Robin sequence. Congenital malformations, clubfoot, cleft palate, and decreased intelligence also indicate a serious underlying condition that must be evaluated early. A diagnosed Catel-Manzke syndrome must be monitored closely. If complications occur, a visit to the doctor is indicated. Even after any surgical procedures, the affected person must regularly visit the doctor’s office and have the course of the disease clarified. In the event of bleeding, scarring or other complaints, the responsible medical professional should be consulted immediately. Further interventions may be necessary. Specialists for hereditary diseases as well as various internists can be consulted in addition to the family doctor. In the event of a medical emergency involving Catel-Manzke syndrome, it is best to call the emergency medical services directly.
Treatment and therapy
With regard to Catel-Manzke syndrome, there are various options for therapy to choose from. Their use is primarily based on the symptoms present in each case and their severity. Basically, however, the therapy of Catel-Manzke syndrome shows great similarities to the treatment of Pierre Robin sequence. In the majority of cases, the disease occurs sporadically. If strong clusters are found within families, genetic counseling of affected individuals is recommended. The symptoms of Catel-Manzke syndrome sometimes result in difficulties with the care of the affected babies. For example, problems with feeding are possible. The breathing of the affected children is also susceptible to complications. If a cleft palate is present, it is usually corrected before the ninth month after birth as part of a surgical procedure. In addition, orthodontic therapy is usually necessary. Numerous specialists work together in the treatment of children to ensure the best possible development of the patient. If the therapy is well adapted to the individual symptoms, this usually has a positive effect on the prognosis of the disease.
Outlook and prognosis
Because Catel-Manzke syndrome is a genetic disorder, it cannot be cured causally or completely. Only the individual symptoms can be treated, so those affected usually have to live with restrictions throughout their lives. Due to the defects in the heart, the life expectancy of the affected person may also be reduced by the syndrome. If the syndrome is not treated, patients suffer from a number of deformities on the body, all of which significantly reduce the quality of life and make everyday life more difficult. Intelligence is also reduced by the syndrome, making patients dependent on intensive care and supervision. Treatment can only alleviate some of the symptoms, so that, for example, surgical interventions take place to correct the cleft palate or clubfoot. Development can also be promoted by intensive therapy in order to avoid complications in adulthood. Because of the severe symptoms, Catel-Manzke syndrome often also has a negative effect on the psychological state of parents and relatives, so that they are also dependent on psychological help.
Prevention
No measures for the prevention of Catel-Manzke syndrome are yet known. The condition exists from birth, so therapy is the focus instead.
Follow-up
Because Catel-Manzke syndrome is a congenital disorder, the options for follow-up care are relatively limited in most cases. In general, the syndrome itself can only be treated symptomatically and not causally. If the person affected by the syndrome has a desire to have children, genetic counseling may be useful to prevent the recurrence of the syndrome in the children. Usually, the symptoms of Catel-Manzke syndrome are treated by surgical procedures. However, these depend very much on the exact manifestation of the symptoms, so that no general prediction can be made here.After a surgical procedure, the patient must rest and take it easy. In the further course of life, those affected are often dependent on further operations on the jaw, so regular examinations of the jaw make sense. Parents, in particular, must be active in this regard. Child development can also be slowed down by Catel-Manzke syndrome, so that patients are dependent on intensive care. Here, of course, care by one’s own family has a very positive effect on the course of the disease. Furthermore, contact with other Catel-Manzke syndrome patients can also have a positive effect on the course of the disease, as this can lead to an exchange of information.
What you can do yourself
Children with Catel-Manzke syndrome need close-meshed treatment and the support of parents and relatives. The most important self-help measure is to follow the doctor’s instructions regarding medication and diet. Depending on the type and severity of the symptoms, the physician will also recommend hygienic measures to the patient. For example, in the case of malformations in the genital area, attention must be paid to comprehensive intimate hygiene in order to avoid infections and other complications. If there is a defect in the heart in connection with the rare disease, the child may need a pacemaker or even a donor heart. The parents should visit a specialized clinic and discuss further steps with a specialist in hereditary diseases. Psychological therapy is usually also necessary to accompany the physical treatment. Especially in the case of external malformations in the area of the face, the child often needs support from a child psychologist. Furthermore, measures must be taken to enable the child to have a normal childhood without exclusion. These include enrollment in a special kindergarten, appointments with eye, ear, and dental specialists, and arranging for assistive devices, such as orthopedic shoes or a wheelchair. The physician in charge can assist family members with these steps.
