• Friday July 10,2020

Kampomele dysplasia

Campomile dysplasia is a mutation-related malformation syndrome. Skeletal dysplasia, stunted growth and respiratory hypoplasia characterize the picture. About ten percent of patients survive the first weeks of life and receive symptomatic oeprative treatment to correct their malformations.

What is a Campylobal Dysplasia?

The cause of the Campomele Dysplasia lies in the genetic material of the patients. The malformation syndrome is a genetic defect.
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Malformation syndromes are congenital combinations of malformations of different tissues and organs. Malformation syndromes often include symptomatic skeletal dysplasia. This applies, for example, to the Campomele Syndrome, which is also known as Campomile Dysplasia. Skeletal dysplasia is a congenital bone or cartilage defect known as osteochondrodysplasia by physicians.

The campomele syndrome is characterized by a bending of the upper and lower leg bones. This kampomelia is often associated with dwarfism 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 may also be associated with cloverleaf skulls. The final form of the apparition is the mildest form and is referred to as "skeletal dysplasia related to campomelic dysplasia." The first description was made in the twentieth century by John Caffey.In 1971, the German pediatrician Spranger and the Paris pediatrician Maroteaux coined the term "campomelic dysplasia".

causes

The cause of the Campomele Dysplasia lies in the genetic material of the patients. The malformation syndrome is a genetic defect. Mutations in the SOX9 gene on the long arm of chromosome 17 in the 17q24 chromosome region cause the individual symptoms of the syndrome. The mutations usually occur spontaneously, but in principle can also be inherited in autosomal dominant inheritance.

The SOX9 gene encodes a proteinergic transcription factor whose expression in embryogenesis is critical for sex characteristics and skeletal development. Numerous mutations were documented with the involvement of the SOX9 gene and resulted, inter alia, frameshifts and translocations.

Due to the multiform mutations, there is variable expressivity for the clinical picture of the disease. Presumably, chromosomal aberrations in the control regions of the gene or residual activity of the SOX9 protein are responsible for the milder forms of the disease. The mildest forms of the disease sometimes occur in translocations and inversions.

Symptoms, complaints & signs

The cardinal symptom for patients with campomelic dysplasia lies in a bending of the upper and lower leg bones. In addition to this bending syndrome patients usually suffer from clinical criteria such as facial dysmorphism in the form of a flat nasal root, a micrognathia, cleft palate or dolichocephaly.

In addition, dwarfism is present in most cases. In addition, anomalies such as clubfoot or hip dislocation may occur. An additional concomitant symptom may be polyhydramnios. The involvement of the mutant protein in the sex characteristics can also cause genital malformations in patients with the syndrome.

These malformations often correspond to a hypospadias, but can also manifest in intersexual genitals or in complete sex reversal. Many sufferers also have only eleven pairs of ribs. In severe cases of the syndrome, the children are not viable and are therefore already born dead or die immediately after birth. Lighter cases survive and soon suffer from chronic symptoms of the respiratory tract.

Diagnosis & disease course

To diagnose the Campomelen dysplasia, an X-ray image is first made showing characteristic signs. In addition to bending, including angulation of the center of the diaphysis in the femur, there is often hypoplasia of the lateral vertebral body processes or shoulder blades.

Cervical spine kyphosis is as common as lack of pubic bone, pear-shaped ilium, or anomaly of the hip joint. Also hypoplasias of the respiratory tract can speak for the syndrome, such as pulmonary hypoplasia. By means of fine ultrasound a prenatal diagnosis is now possible.

A genetic diagnosis in the form of an amniocentesis or a chorionic villus biopsy can secure this. Affected children have a rather unfavorable prognosis. Most patients die shortly after birth due to respiratory failure. Up to ten percent survive.

complications

This disease causes a relatively high mortality rate right after birth, with most patients dying immediately thereafter. If the victim survives, however, numerous interventions are necessary to keep the patient alive. In most cases, parents and relatives in particular suffer from mental health problems or depression and require psychological support.

The patients themselves suffer from a cleft palate and a clubfoot. Likewise, other malformations and malformations occur on the entire body, which have a significantly negative impact on the everyday life and the aesthetics of the affected person. If the child survives the birth, it can also lead to respiratory problems and also to respiratory insufficiency. This can also lead to the death of the person concerned.

Since a diagnosis is possible before the birth, the pregnancy can be terminated prematurely at the request of the parents. Also in this case, a psychological treatment is often necessary. The treatment of the patient takes place with the help of surgical interventions and therapies. Whether there is a reduced life expectancy can not be generally predicted.

When should you go to the doctor?

If the child suffers from malformations such as cleft palate, flat 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 indeed a Campomele dysplasia, treatment must be initiated immediately. The doctor in charge will first consult other doctors, such as an ophthalmologist or speech therapist, and work out an individual therapy with them and their parents.

The physical treatment is usually accompanied by a therapeutic advice for parents and child. In addition, a single therapy for the child is recommended. Especially in puberty, the disease can cause mental discomfort and move those affected to social withdrawal. Parents who notice signs should talk to the child about psychological counseling. In addition, the drug treatment must be continued. Parents should inform the doctor regularly about any side effects and interactions.

Treatment & Therapy

A causal therapy is not yet available for patients with Campile Dysplasia. Genetic therapeutic approaches may open up new treatment options in the future. However, gene therapy is not yet in the clinical phase. The malformation syndrome is therefore treated up to the present time purely symptomatic and supportive.

The symptomatic treatment focuses primarily on ensuring the survival of the children as long as possible. As a supportive measure, parents are often given psychotherapists to help them deal with the situation. Invasive correction of hypoplasia of the respiratory tract and other respiratory distressing abnormalities such as rib anomalies is one of the most important steps in postpartum treatment of surviving patients.

Abnormalities such as hip dislocation can be remedied in a conversion operation, if the general condition of the patient allows it. All that is crucial is the observation of those affected. Any complications, such as kyphoscoliosis or respiratory infections, are detected as quickly as possible and may be remedied promptly, either medically or invasively. In addition, an observation for threatening hearing loss is required. Any learning difficulties or cognitive deficits will be improved through early intervention.

Outlook & Forecast

In addition to the symptomatic treatment of the ill child, the caring parents can also support the treatment themselves. The top priority here is to give the children a lot of security and love, which is an important support for the children in the face of their complaints and pain.

Depending on the severity of the illness, the individual symptoms and the prescriptions of the treating physicians, it is also possible to work with physical and occupational therapy exercises for the home. Irrespective of this, it is advisable to use orthopedic aids and to lovingly care for the child after surgery and to avoid any stress. Absolutely indispensable are regular check-ups in the responsible specialist clinic and the contact to the doctors in case of deterioration or hitherto unnoticed symptoms.

In order to be able to provide the child with sufficient support, the parents must also take care of themselves and, in case of doubt, seek help in coping with the trauma they have suffered. In addition to professional psychotherapy, it is also helpful to visit self-help groups in order to exchange ideas with other parents and, under certain circumstances, to receive tips and tricks for a better quality of life. The Nursing Fund also provides preventive care for up to six weeks a year, during which the relatives can recharge their batteries or even find time with potential siblings.

prevention

Up until now, it has only been possible to prevent the kampomelic dysplasia in the context of fine ultrasound. Since it is usually a new mutation, the causative mutations can not be excluded by genetic counseling in the phase of family planning. If a diagnosis for the syndrome is made on the basis of the ultrasound and subsequent molecular genetic clarification, parents can decide against the child.

aftercare

The measure of follow-up in this disease are in many cases very severely limited or not available to the person concerned. First and foremost, a doctor must be contacted relatively early so that there is no further worsening of the symptoms or other complications. In many cases, the affected children die in the first 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 have a very positive effect on the further course and can also prevent depression or other mental upsets. In case of a new desire to have a child, a genetic examination and counseling can be very helpful, so that the disease can not occur again in the children.

Due to the many malformations in the children, these are dependent on rebuff checks and examinations by various doctors. Likewise a comprehensive promotion in the lives of the children is necessary, so that they can develop well. As a rule, the disease greatly reduces the life expectancy of the affected children, and a general prediction about these can not be made.

You can do that yourself

The symptomatic treatment of a Campomelen dysplasia can be supported by the parents of a sick child through a series of measures. It is important in the first place to give the child security. Since the disease is often associated with severe pain and other symptoms, the child needs the support of the relatives all the more.

Whether the treatment of individual symptoms can be supported depends on the type of symptoms and the doctor's instructions. In case of malformations orthopedic aids can be used. After an operation, it must be ensured that the child is safe and is not exposed to unnecessary stress. Accompanying this, regular check-ups in the specialist clinic are required.

As a supportive measure, the parents of an affected child are offered psychotherapy. In a conversation with a therapist, the relatives learn how to deal with the traumatic situation and usually also have the opportunity to get in touch with other victims via a self-help group. In addition, often a drug treatment is recommended, whether by medical preparations or by natural sedatives such as valerian.


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