Campomelic dysplasia is a mutation-related malformation syndrome. Skeletal dysplasia, short stature and respiratory hypoplasia characterize the picture. Around ten percent of the patients survive the first weeks of life and receive symptomatic operative treatment to correct their deformities.
What is campomelic dysplasia?
The cause of campomelic dysplasia lies in the genetic material of the patients. The malformation syndrome is a genetic defect. See AbbreviationFinder for abbreviations related to Campomelic Dysplasia.
Malformation syndromes are congenital combinations of malformations of different tissues and organs. Malformation syndromes often involve symptomatic skeletal dysplasia. This applies, for example, to kampomele syndrome, which is also known as kampomele dysplasia. Skeletal dysplasia is a congenital defect in bone or cartilage tissue, which doctors call osteochondrodysplasia.
The main symptom of the kampomele syndrome is a bending of the upper and lower leg bones. This campomelia is often associated with short stature and is fatal in many cases. Different forms of the syndrome are now distinguished:
- Campomelic dysplasia
- Campomelic dysplasia with autosomal sex reversal
- an acampomelic campomelic dysplasia
- Campomelic dysplasia (long-limb form)
- short limb form
The Short-limb form can also be associated with trefoil skull. The last form of the phenomenon is the mildest form and is referred to as “Skeletal Dysplasia related to campomelic dysplasia”. It was first described in the 20th century by John Caffey. In 1971, the German pediatrician Spranger and the Parisian pediatrician Maroteaux coined the term campomelic dysplasia.
The cause of campomelic dysplasia lies in the genetic material of the patients. The malformation syndrome is a genetic defect. The individual symptoms of the syndrome are caused by mutations in the SOX9 gene on the long arm of chromosome 17 in the chromosome region 17q24. The mutations usually take place spontaneously, but can in principle also be inherited in the autosomal dominant mode of inheritance.
The SOX9 gene encodes a proteinaceous transcription factor whose expression during embryogenesis is critical for sexual characteristics and skeletal development. Numerous mutations have been documented involving the SOX9 gene, resulting in frameshifts and translocations, among others.
Due to the diverse mutations, there is variable expressivity for the clinical picture of the disease. Chromosomal aberrations in the control regions of the gene or residual activity of the SOX9 protein are probably responsible for the milder forms of the disease. The sometimes mildest forms of the disease arise during translocations and inversions.
Symptoms, Ailments & Signs
The main symptom for patients with campomeler dysplasia is a bending of the upper and lower leg bones. In addition to this curvature, the patients of the syndrome usually suffer from clinical criteria such as facial dysmorphism in the sense of a flat nasal bridge, micrognathia, cleft palate or dolichocephaly.
In addition, short stature is present in most cases. In addition, anomalies such as clubfoot or hip dislocation can occur. An additional accompanying symptom can be polyhydramnios. Due to the involvement of the mutated protein in the development of sex characteristics, patients with the syndrome can also develop genital malformations.
These malformations often correspond to hypospadias, but can also manifest in intersexual genitals or in complete gender reversal. Many of those affected also have only eleven pairs of ribs. In severe cases of the syndrome, the children are not viable and, accordingly, are already stillborn or die immediately after birth. Milder cases survive and soon suffer from chronic respiratory symptoms.
Diagnosis & course of disease
To diagnose campomelic dysplasia, an X-ray is first made, which shows characteristic signs. In addition to a bending, including angulation, of the center of the diaphysis in the femur, there is often hypoplasia of the lateral vertebral processes or shoulder blades.
Cervical kyphosis is just as common as a lack of pubic ossification, a pear-shaped ilium, or an anomaly of the hip joint. Hypoplasia of the respiratory tract can also speak for the syndrome, such as pulmonary hypoplasia. Prenatal suspected diagnosis is now possible by means of fine ultrasound.
This can be confirmed by genetic diagnostics in the form of an amniocentesis or a chorionic villus biopsy. Affected children have a rather unfavorable prognosis. Most patients die shortly after birth due to respiratory failure. Up to ten percent survive.
This disease has a relatively high mortality rate immediately after birth, with most patients dying immediately thereafter. If the person concerned survives, however, numerous interventions are necessary to keep the patient alive. In most cases, it is primarily the parents and relatives who suffer from psychological problems or depression and need psychological support.
The patients themselves suffer from a cleft palate and clubfoot. Other malformations and malformations also occur all over the body, which have a clearly negative effect on everyday life and the aesthetics of those affected. If the child survives the birth, breathing difficulties and respiratory failure can also occur afterwards. It can also lead to the death of the person concerned.
Since a diagnosis can be made before birth, the pregnancy can also be terminated prematurely if the parents so wish. In this case, too, psychological treatment is often necessary. The patient is treated with the help of surgical interventions and therapies. It cannot be generally predicted whether life expectancy will be reduced.
When should you go to the doctor?
If the child suffers from malformations such as cleft palate, flattened bridge of the nose or facial dysmorphism, a doctor must be consulted. Parents of affected children should inform the pediatrician immediately so that a diagnosis can be made quickly. If it is actually campomelic dysplasia, treatment must be initiated immediately. The doctor in charge will first consult other doctors, for example an ophthalmologist or a speech therapist, and work out an individual therapy together with them and the parents.
The physical treatment is usually accompanied by therapeutic counseling for parents and child. Individual therapy for the child is also recommended. Especially during puberty, the disease can cause psychological problems and cause those affected to withdraw from society. Parents who notice such signs should talk to the child about psychological counseling. In addition, drug treatment must also be continued. Parents should regularly inform the doctor about any side effects and interactions.
Treatment & Therapy
A causal therapy is not yet available for patients with campomelic dysplasia. Gene therapy approaches could potentially open up new treatment options in the future. However, gene therapy is not yet in the clinical phase. Up until now, the malformation syndrome has therefore been treated purely symptomatically and supportively.
The main focus of symptomatic treatment is to ensure the survival of the children for as long as possible. As a supportive measure, the parents of those affected are often provided with psychotherapists to help them deal with the situation. Invasive correction of respiratory hypoplasia and other respiratory malformations such as rib anomalies is one of the most important steps in the postnatal management of surviving patients.
Malformations such as hip dislocation can be corrected in a conversion operation if the general condition of the patient allows it. Observing those affected is crucial. In this way, any complications such as kyphoscoliosis or respiratory infections are recognized as quickly as possible and can possibly be corrected in good time with medication or invasively. In addition, observation for impending hearing loss is required. Any learning difficulties or cognitive deficits are improved through early support.
Outlook & Forecast
In addition to the symptomatic treatment of the sick child, the caring parents can also support the treatment themselves. The top priority here is to convey a lot of security and love to the children, which is an important support for the children in the face of their complaints and pain.
Depending on the severity of the disease, the individual symptoms and the specifications of the treating physicians, physical and ergotherapeutic exercises can also be carried out at home. Irrespective of this, it is advisable to use orthopedic aids and to take special care of the child after operations and to avoid any stress. Regular check-ups in the responsible specialist clinic and contacting the doctors if the symptoms worsen or have not been noticed before are absolutely essential.
In order to be able to provide the child with sufficient support, the parents must also take care of themselves and, if in doubt, seek help in dealing with the trauma they have suffered. In addition to professional psychotherapy, it is also helpful to visit self-help groups to exchange ideas with other parents and, under certain circumstances, to receive tips and tricks for a better quality of life. The long-term care insurance fund also enables respite care for up to six weeks a year, during which relatives can recharge their batteries or find time with possible siblings.
So far, campomelic dysplasia can only be prevented by means of fine ultrasound. Since it is usually a new mutation, the causative mutations cannot be ruled out by means of genetic counseling in the family planning phase. If a diagnosis of the syndrome is made on the basis of the fine ultrasound and a subsequent molecular genetic clarification, parents can decide against the child.
In many cases, follow-up care for this disease is very limited or not available to the person concerned. First and foremost, a doctor must be contacted relatively early on so that the symptoms do not worsen further or other complications occur. In many cases, the affected children die within the first few weeks of life.
The affected parents and their relatives are therefore usually dependent on intensive psychological care. Loving and empathetic conversations with one’s own family also have a very positive effect on the further course and can also prevent depression or other mental upsets. If you want to have children again, a genetic examination and counseling can also be very helpful, so that the disease cannot recur in the children.
Due to the many malformations in the children, they are dependent on reproductive controls and examinations by various doctors. Comprehensive support in the life of the children is also necessary so that they can develop well. As a rule, the disease greatly reduces the life expectancy of affected children, although general predictions about this cannot be made.
You can do that yourself
The symptomatic treatment of campomelic dysplasia can be supported by a number of measures by the parents of a sick child. The most important thing is to give the child a sense of security. Since the disease is often accompanied by severe pain and other symptoms, the child needs the support of the relatives all the more.
Whether the treatment of the individual symptoms can be supported depends on the nature of the complaints and the specifications of the doctor. In the case of malformations, orthopedic aids can be used. After an operation, it must be ensured that the child rests and is not exposed to any unnecessary stress. In addition, regular check-ups in the specialist clinic are required.
As a supporting measure, psychotherapy is offered to the parents of an affected child. In a conversation with a therapist, the relatives learn how to cope with the traumatic situation and usually also have the opportunity to get in touch with other affected people via a self-help group. Furthermore, drug treatment is often recommended, be it through medical preparations or through natural tranquilizers such as valerian.