The Catel-Manzke syndrome or Catman is relatively rare 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, a glossotope and microgenius. It is also characteristic that there are too many finger parts on the hands. In addition, the index finger is bent (medical term clinodactyly).
What is Catel-Manzke Syndrome?
The Catel-Manzke syndrome is synonymous with digital syndrome or Pierre Robin syndrome with deformation of the index finger. This is a so-called dysmorphic syndrome. The name of the disease is derived from the German doctors Catel and Manzke, who first described Catel-Manzke syndrome. The prevalence of the disease is estimated at 1 in 1,000,000.
Basically, the Catel-Manzke syndrome is inherited to the offspring in an autosomal recessive way. The disease primarily affects the skeleton and bones. This shows a hyperphalangia on both sides and an angled index finger.
In addition, the affected patients suffer from the characteristic symptoms of the Pierre Robert Sequence. At the current time, 33 people are known to have Catel-Manzke syndrome.
Causes
The causes for the development of the Catel-Manzke syndrome are primarily genetic. The decisive factors are special mutations that occur in certain gene locations and thus lead to the development of the disease. Specifically, the so-called TGDS gene is affected by the mutations. This gene is located at 13q32.1.
Symptoms, ailments & signs
The Catel-Manzke syndrome is expressed through various symptoms and ailments. The main symptom, however, is the hyperphalangia on the index finger, which appears on both hands. In addition, there is a superfluous 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, the Catel-Manzke syndrome occurs in combination with the Pierre Robin sequence. Characteristic symptoms such as microgenius and glossoptosis are thus evident. Most patients also have a cleft palate.
In addition, many affected people suffer from deformities that exist from birth. For example, defects in the heart, such as defects in the ventricular septum or the atrial septum, are possible. Signs such as iris coloboma or deviations in facial features from the average appearance are much less common.
Those affected often have short eyelids, hypertelorism and round cheeks. The ears are often lower than usual and some are turned backwards. In addition, Catel-Manzke syndrome may be associated with scoliosis, pectus excavatum and brachydactyly.
Occasionally short toes, clubfoot and decreased intelligence appear. In addition, in the context of Catel-Manzke syndrome, there may be an unnecessary tubular bone or a proximal phalange forms on the finger.
Diagnosis & course
If typical signs of Catel-Manzke syndrome appear, it is advisable to consult a specialist. In numerous cases, however, a diagnosis is possible a short time after birth, as the deformed index fingers and the symptoms of the Pierre Robert sequence are very noticeable and indicate the disease relatively clearly.
The anomalies of the finger bones can be reliably identified in the course of radiological examinations. Superfluous bones are made visible in the shape of trapezoids or triangles. These are usually located on the second metacarpal and the corresponding phalanx. Here the bone often has a changed structure that is reminiscent of cones.
An epiphysis is also possible in this area. With increasing age of the person concerned, the superfluous bone parts connect with the existing proximal phalanx. In this way, the metacarpo-phalangeal joint may become subluxated.
Carrying out a thorough differential diagnosis is very important. It is important to watch out for other types of bone abnormalities. 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 doctor should be consulted. Parents who notice the typical malformations on their index finger should clarify this immediately. Medical advice must be obtained at the latest when signs of heart disease appear.
The Catel-Manzke syndrome mostly occurs in connection with the Pierre Robin sequence. Congenital malformations, clubfoot, a cleft palate and reduced intelligence also indicate a serious underlying disease that needs to be clarified at an early stage. A diagnosed Catel-Manzke syndrome must be closely monitored.
If complications arise, a doctor’s visit is indicated. Even after any surgical interventions, the person affected must regularly visit the practice and have the course of the disease clarified. In the event of bleeding, scarring or other complaints, the responsible doctor should be spoken to immediately.
Further interventions may be necessary. Specialists in hereditary diseases and various internists can also be consulted with the family doctor. In the event of medical emergencies involving Catel-Manzke syndrome, it is best to call the emergency medical service directly.
Treatment & Therapy
With regard to the Catel-Manzke syndrome, there are various therapy options to choose from. Their use is primarily based on the respective complaints and their severity. Basically, however, the therapy of Catel-Manzke syndrome shows great similarities to the treatment of the Pierre Robin sequence.
In the majority of cases, the disease occurs sporadically. If there are strong clusters within families, genetic counseling is recommended for the affected person. Due to the symptoms of Catel-Manzke syndrome, there are sometimes difficulties with caring for sick babies. For example, problems with feeding are possible.
The breathing of the affected children is also prone to complications. If there is a cleft palate, it is usually corrected before the ninth month after the birth as part of a surgical procedure. In addition, orthodontic therapy is usually necessary.
Numerous specialists work together to treat 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 & forecast
Since Catel-Manzke syndrome is a genetic disease, it cannot be cured either causally or completely. Only the individual symptoms can be treated, so that those affected usually have to live with restrictions their entire life. The defects in the heart may also reduce the life expectancy of the person affected by the syndrome.
If the syndrome is not treated, the patient will suffer from a number of malformations 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, so that patients are dependent on intensive care and support.
A treatment can only alleviate some symptoms, so that, for example, surgical interventions take place to correct the cleft palate or the clubfoot. Development can also be promoted through intensive therapy in order to avoid complications in adulthood.
Due to the serious complaints, the Catel-Manzke syndrome often also has a negative effect on the psychological state of the parents and relatives, so that they too are dependent on psychological help.
Prevention
There are no known measures to prevent Catel-Manzke syndrome. The disease exists from birth, so the focus is on therapy instead.
Aftercare
Since Catel-Manzke syndrome is a congenital disease, the options for follow-up care are relatively limited in most cases. As a rule, the syndrome itself can only be treated symptomatically and not causally. If the person affected by the syndrome wishes to have children, genetic counseling can be useful to avoid recurrence of the syndrome in the children.
As a rule, the symptoms of Catel-Manzke syndrome are treated with surgical interventions. However, these depend very much on the exact severity of the complaints, so that no general prediction can be made here. After an operation, the patient has to rest and take it easy. In later life, those affected are often dependent on further operations on the jaw, so that regular examinations of the jaw make sense.
Above all, the parents have to be active. Child development can also be slowed down by Catel-Manzke syndrome, so that patients are dependent on intensive care. Of course, being cared for by your own family has a very positive effect on the course of the disease. Furthermore, contact with other patients with Catel-Manzke syndrome can also have a positive effect on the course of the disease, as this can lead to an exchange of information.
You can do that yourself
Children with Catel-Manzke syndrome require close treatment and the support of parents and relatives. The most important self-help measure is to adhere to the doctor’s instructions regarding medication and diet.
Depending on the type and severity of the symptoms, the doctor will also recommend hygienic measures to the patient. In the case of malformations in the genital area, extensive intimate hygiene must be observed in order to avoid infections and other complications. If there is a heart defect in connection with the rare disease, the child may need a pacemaker or even a donor heart. Parents should visit a specialist clinic and discuss the next steps with a hereditary disease specialist.
In addition to the physical treatment, psychological therapy is usually necessary. The child often needs support from a child psychologist, especially in the case of external malformations of the face.
Furthermore, measures must be taken to enable the child to have a normal childhood without exclusion. This includes, among other things, the registration at a special kindergarten, appointments with eye, ear and dentists and the organization of aids such as orthopedic shoes or a wheelchair. The doctor in charge can support the relatives in these steps.
