When Cleidokranialen dysplasia is a disorder that is characterized mostly by the absence or underdevelopment of the clavicles and a wide opening of fontanelles and cranial sutures. Other bones in the body can also be deformed. In addition, tooth changes can occur as part of the disease. Cleidocranial dysplasia is inherited and is very rare.

What is Cleidocranial Dysplasia?

Cleidocranial dysplasia is characterized by a malformation of connective tissue-like or cartilaginous preformed bones. Primarily the collarbones, the pelvis and the skull are affected by the malformations. The frequency of the disease is 1: 1,000,000, making it extremely rare.

Cleidocranial dysplasia is a hereditary disease in which inheritance usually takes place in an autosomal dominant way. In addition, there is also a recessively inherited form. Cleidocranial dysplasia is one of the diseases with congenital malformations of the upper extremities and the shoulder girdle.

Causes

Since cleidocranial dysplasia is an inherited disease, the main cause is a genetic defect. The disease is primarily caused by mutations in a special gene, the so-called RUNX2 or CBFA1 gene. The genetic defect responsible for cleidocranial dysplasia is inherited in an autosomal dominant manner.

However, every third patient affected is a spontaneous mutation that has emerged. The RUNX2 / CBFA1 gene responsible for the disease has the task of differentiating progenitor cells from osteoblasts. The gene is also responsible for the differentiation of chondrocytes, which are relevant with regard to enchondral bone formation. As a result, cleidocranial dysplasia leads to reduced enchondral and reduced desmal bone formation.

Symptoms, ailments & signs

In the context of cleidocranial dysplasia, various symptoms and complaints can arise, which primarily result from the malformations of the affected bones. The symptoms therefore vary depending on the clinical picture, the location of the malformations and the severity of the cleidocranial dysplasia. The disease is characterized, for example, by the small size of the person affected, although this fact only becomes apparent in adulthood or after the growth phase has ended.

The female patients have an average height of 149 centimeters, while the male patients are on average 170 centimeters tall. Cleidocranial dysplasia is also associated with other symptoms. The disease can manifest itself, for example, in the fact that those affected are able to bring their shoulders unusually close together.

In some cases it is even possible that the shoulders touch. In addition, the affected patients have a relatively narrow thorax. This is also characterized by a bell-like shape. The shoulder blades can also protrude like wings. Certain malformations in the context of cleidocranial dysplasia can cause a narrow pelvis. Changes can also be made to the hands and feet of the affected patient.

Diagnosis & course

The diagnosis of cleidocranial dysplasia arises primarily from the obvious clinical symptoms of the disease in the form of malformations of the bones. These are reliably diagnosed by typical changes that can be determined by means of an X-ray examination. For example, the affected people have a short and unusually wide head (medical name brachycephaly).

Abnormalities are also evident in the brain skull, which is particularly large. At the same time, the facial skull tends to be smaller. The patient’s face also shows peculiarities that can be traced back to Cleidocranial Dysplasia. For example, the distance between the two eyes is increased and the fontanel in the front area of ​​the skull is not closed.

Patients experience delays in ossification of the skull, and the fontanelles can remain very wide open into adulthood. The x-ray also shows that there are changes in the form of malformations of the bones in the area of ​​the femoral neck and pelvis. In addition, the diagnosis of cleidocranial dysplasia can be confirmed by molecular genetic examinations. If a mutation of the RUNX2 or CBFA1 gene is proven, the diagnosis can be made with certainty.

Complications

In most cases, cleidocranial dysplasia involves various deformations of the bones in the patient’s body. There are also malformations and changes in the teeth, which stress the everyday life of the person concerned. As a rule, all complaints and complications in this disease arise from the malformations of the bones.

They therefore depend heavily on the respective malformation. In many cases there is a reduced body size, which can only be diagnosed at a young age. A short stature cannot be proven directly in childhood. Malformations on the shoulders often also occur, so that these even touch each other in the patient.

Changes to the pelvis, hands and feet also occur. In the worst case, this can also lead to a restriction of movement. The patient may then be dependent on the help of other people in everyday life. As a rule, no causal treatment of the disease is possible.

The treatment is therefore mainly based on the symptoms and malformations. In many cases these can be corrected surgically so that there are no restrictions on the patient. Life expectancy is not reduced by the disease. The development of intelligence is also not affected.

When should you go to the doctor?

Cleidocranial dysplasia is usually diagnosed immediately after birth and, as far as possible, treated directly. Whether further visits to the doctor are necessary depends primarily on the severity of the malformations. For example, misalignments of the teeth and changes in the pelvis must be clarified and treated by a doctor in any case. Parents who notice restricted mobility or other symptoms in their child that suggest a serious illness should speak to their pediatrician.

They will do a full physical exam and then refer the parents to an appropriate specialist. In addition, a doctor should be consulted if additional symptoms arise in further life or the child suffers psychologically from the existing malformations.

In the case of mental problems such as inferiority complexes or depression, it is best to speak to a therapist directly. Sometimes those affected also need support in everyday life. This should be done as early as possible, preferably immediately after the diagnosis of cleidocranial dysplasia.

Treatment & Therapy

With regard to the treatment of cleidocranial dysplasia, various methods are available that are based on the severity of the malformations. With malformations of the shoulder girdle, the affected patients are in most cases hardly or not at all restricted in their everyday life. Therefore, no therapy is necessary in this case.

As part of the treatment of tooth changes, which can also be related to cleidocranial dysplasia, these are treated by a dentist or orthodontist. The main goal here is to obtain a functionally and aesthetically satisfactory result. Therefore missing, redundant and abnormal teeth of the affected person are removed. In addition, the bone density should be checked regularly to counteract possible osteoporosis.

Outlook & forecast

The prognosis for cleidocranial dysplasia is generally good. In only very rare cases there are impairments to the skeletal system that cannot be remedied. The prospect of improving health is tied to the intensity of the malformations present. Each patient has individual complaints as well as the severity of the complaints. These must be taken into account when making a forecast. The cause of the genetic disease cannot be cured.

However, most symptoms and malformations can be treated with the medical options available. Corrections to teeth or bones are made. These represent an immense improvement in the quality of life and remain lifelong. Only a short stature that occurs in the patient cannot be treated or corrected.

Patients who are reduced in height have the worst prognosis for cleidocranial dysplasia. Here the risk of a mental disorder is increased. It can behavioral disorders come or the self-confidence is reduced. Nevertheless, the patient does not suffer from physical complaints such as pain or the like. In addition, life expectancy is in no way affected. However, if a mental illness does occur, well-being deteriorates considerably. Healing often takes several years and can have consequences for all areas of life.

Prevention

Since cleidocranial dysplasia is an inherited disease, there are no options for prevention. There is only the possibility of treating the symptoms of cleidocranial dysplasia and thereby positively influencing the quality of life of those affected.

Aftercare

As a rule, there are no special follow-up options available to those affected with this disease, as the disease cannot be treated causally, but only symptomatically. Since this is a hereditary disease, the parents of the patient and the patient themselves should take part in genetic counseling if they want to have children in order to avoid the possibility of the disease being passed on.

As a rule, the malformations are treated by surgical interventions, whereby the interventions are based on the type and severity of the malformations. After such an operation, the person concerned needs a lot of rest and the body needs both rest. If the disease also affects the oral cavity and leads to malformations or deformities in the teeth, these must also be removed.

Regular checks by a dentist are useful in order to avoid further complications and discomfort to the teeth. The patient’s bone density should also be checked regularly. Since the disease also has a very negative effect on the self-confidence of those affected, psychological counseling can be useful in order to avoid depression and other psychological upsets. The parents of the person concerned can also take part in this.

You can do that yourself

Cleidocranial dysplasia is a hereditary disease. There is currently no way of treating the cause of the disorder. Instead, attempts are made to treat the symptoms in order to improve the quality of life for those affected.

Most of the ailments caused by the disease result from malformations of the bones. Whether and what the patient himself can contribute to improving his or her well-being depends on the type of malformation. If the ability to move is severely restricted, patients should familiarize themselves with the functionality of the various walking aids offered at an early stage.

The correct handling of these aids should be learned at an early stage. An (electric) wheelchair and vehicles specially equipped for the mobility impaired can also help to maintain mobility.

If there are changes in the hands that make it difficult to grasp and write, physiotherapy exercises very often help to regain or improve the ability to move.

Cleidocranial dysplasia is also often associated with changes in the teeth. These are often abnormally large or small, and often the teeth are also severely misaligned. This not only has a very disfiguring effect, but can also make it difficult to eat. In these cases, those affected should consult an experienced dentist and, if necessary, an orthodontist.