Disease Klippel fala: signs, treatment, complications and prognosis

Syndrome, Klippel — feil — a rare anomaly of the spine

Two French neurologist M. Clippele A., Feil in 1912, was able to describe congenital deformity of the cervical-thoracic Department, which began to meet frequently in children born to parents, one a blood relation.

It is known that in the Middle ages, the spouses could be close relatives. This feature resulted in the prevalence of the anomaly, which now has a high frequency of occurrence of one in 42 thousand newborns.

What is represented by the deformation, and is it of concern to young parents?

Features anomalies

The human spine, consisting of numerous segments, can give the most unexpected surprise. The syndrome described by scientists, is a fusion of the cervical vertebrae.

This situation may occur as a single vertebra or several. What determines the number broshennyh segments is not known.

The special features of the disease include:

  • cropped neck – head like «sitting» on the shoulders, the chin touches the chest, and blades located above in comparison with the usual situation (such symptomatology can be explained by the compensation of losses of quantity at the expense of the vertebrae of the thoracic segments);
  • revealed not only the fusion of vertebrae, but their small size;
  • often diagnosed fewer cervical vertebrae.

In addition to the described syndrome, the patient is diagnosed with him and a few other anomalies of the spine.

The causes of the manifestations of the syndrome

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As already stipulated, the syndrome is congenital in nature, which determines the internal changes in the formation of the body in utero.

Disease Klippel Pala may occur as a result of:

  • segmentation;

  • aplasia;
  • the delay of a merger pair formation of the vertebrae;
  • hypoplasia;
  • violation of vascularization.

The risk group also includes children with a dysfunctional family history, where can be observed:

  1. Genetic defect concluded in 12, 5 or 8 chromosome. During the formation of the body this defect would entail a violation of education differentiation growth, which, in turn, will influence the further development of the skeleton. 3-8 week of pregnancy the embryo will be a violation of the formation of the cervical vertebrae, and also possible changes in the formation of borders between joints and bones.
  2. Autosomal recessive type of heritage, where my parents and other relatives who have relatives in at least one patient, increases the risk of syndrome in the newborn (probability is 0 to 50%).
  3. Autosomal dominant type if one of the parents suffers from the disease, the probability of occurrence of the disease in a newborn grows from 50 to 100%.

When planning the child’s parents must fully determine its genotype in order to avoid dysfunctional heritage.

The types of the disease

Anomaly of Klippel-feil may occur in the patient in three forms, which include:

  1. The decrease in the number of segments in the cervical spine, which are fused visually and significantly shorten the neck. This form also entails difficult head movements.
  2. The synostosis of the cervical by fusion with the occipital bone. In this case the patient can not turn his head, because of cervical vertebrae and the head are one monolithic education.
  3. The third form includes the first two, which also may be a synostosis of the segments of the lumbar and Nizhegorodskogo Department.

The reasons for the formation of the patient a certain form does not exactly explained.

Symptoms of the syndrome

The newborn almost immediately can detect the presence of the disease. Here young parents can notice difficult head movements of the baby, and when referring to the neurologist the specialist will diagnose the syndrome of «short neck».

Looking closely to the newborn, the physician and parents may notice the low position of the lower border of the hair towards the neck.

Often, the presence of the syndrome may notice the obstetricians and the pediatrician almost immediately after giving birth which can assign an appropriate survey immediately in the hospital.

Diagnosis of anomalies

Described diagnosed disease with multiple methods of examination and by obtaining the genetic predisposition.

So, diagnostics will be conducted in the following sequence:

  1. For a start, the doctor listens to the complaints of young parents and finds out they have the syndrome cases in the family.
  2. The following is the examination by a neurologist, which evaluates the mobility of the neck and detects a curvature of the spine.
  3. Babies prescribe x-rays of the cervical and vermehrung Department. Snapshots allow you to fully evaluate the clinical picture. Possible to conduct multiple surveys with different provisions of the head.
  4. Then a child is prescribed ultrasound of internal organs, among which of particular importance are the heart and kidneys.
  5. Conduct electrocardiogram, so as to find out a disruption of the heart.
  6. The elucidation of a genetic predisposition, through interviews with relatives revealed the occurrence of the syndrome in relatives. Conversation can be involved several representatives of both parents.
  7. After the conversation, conduct genetic studies involving several relatives and identify the genetic defect.
  8. If necessary, consult other specialists.

Carefully and with proper understanding relate to required examinations, as the disease is detected in time has great chances of partial recovery.

If curable disease?

Hereditary diseases are often not amenable to complete cure, but partly to stop its development.

So, in the case of anomaly, the Klippel – feil uses several methods for some relief of the symptoms and prevent further complications.

Conservative methods of treatment

Massage and therapeutic exercise. Often, these method are ineffective, so the patient begins to suffer from painful symptoms due to the occurrence of radicular syndrome (infringement of the nerve by the vertebrae).

In this case, the apply medication of various analgesic, anti-inflammatory and nonsteroidal drugs.

Surgery

The patient removed the upper four ribs and the periosteum, which, due to the bias located much above the norm and put pressure on internal organs and heart, leading to disruption of their work.

Of course, this method of treatment takes a long time, because the deletion of edges takes place in two stages – first ribs removed from one side, then after full recovery on the other.

The recovery period also takes time. In addition, at this time a person is forced to be stationary.

From operations should not be discarded, otherwise the patient runs the risk of significantly reduce their lifespan, but also provoke the emergence of other dangerous diseases.

Complications and prognosis for the patient

After surgery and recovery the patient can freely move their head and lead a normal life. His neck is slightly wider in length, which from an aesthetic point of view is a favorable aspect.

In the case of frivolous attitude of the patient developing diseases of the internal organs, but also having severe pain in connection with the formation of the infringement of the nerve root, which in severe cases can lead to complete «immobilization» of the neck and extremities.

In the process of degenerative changes can be observed limb numbness and atrophy of muscles.

According to experts, the fusion of the vertebrae does not constitute a danger, in addition to aesthetic inconvenience.

Attention should be paid to complications, because they can significantly shorten the life expectancy of man, to provoke irreversible processes in diseases of internal organs, as well as will lead to the formation of pathologies of the respiratory system and heart disease.

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