Syndrome, Klippel-feil is a congenital pathology, the main signs of which is a short neck and limited range of motion of the head.
The disease is named after the scientists who discovered it in the first half of the twentieth century. Another name used in the medical community, syndrome short neck.
Congenital refers to number of rare anomalies. It occurs in one child out of 120 000 newborns. The first signs of disease become apparent after birth. The growth of the patient they are made even more explicit, which is evident at photos of patients of different ages. For the diagnosis of the defect, the most commonly used x-ray therapy in the majority of instances, conservative methods. Surgical intervention is only necessary when the disease is accompanied by compression of the nerve endings and leads to constant pain.
Causes of pathology
Syndrome, Klippel-feil – a disease caused by genetic predisposition. It often affects members of the same family. If you have distant or close relatives with this anomaly, when planning pregnancy should visit the doctor-genetics. It will determine how likely the baby is born with this pathology.
To the occurrence of congenital anomalies are three types of inheritance:
- A genetic defect in 5, 8 or 12 – chromosome, its effect is already noticeable in the first trimester of pregnancy, when disrupted the normal formation of the vertebrae in the cervical spine.
- Autosomal recessive type of heredity – if parents have relatives suffering from the disease, the risk of having a child with a pathology is 0-50%.
- Autosomal dominant type of heredity – if your mother or father suffer from the syndrome of the neck curve, the probability to give birth to a sick child equal to from 50 to 100%.
Genetic problems lead to the disruption of protein synthesis, which is responsible for the formation of bones and joints, as well as distinctions between them. As a result, the embryo is formed incorrectly cervical spine: fused vertebrae, they do not reach normal size, developing in fewer numbers than in a healthy person.
All of these anomalies subsequently the x-rays.
Another cause of disease – teratogenic factors influencing a woman’s body during pregnancy. Example of effects – adverse environmental conditions, the impact of toxic chemicals, work in hazardous industries. As a result of the fetus interferes with the normal development of the spine, can also suffer liver, kidney and heart.
The typical symptoms of the pathology
Syndrome, Klippel-feil manifested from birth. To notice the anomaly, do not even need x-rays. There are three characteristics:
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- Cropped neck – it seems that the baby’s head rests.
- Limited mobility – patient cannot rotate the head, to make the amplitude tilt.
- The peculiarity of the growth of hair – hair lasts beyond the usual boundaries, it is observed on the neck.
The presence of these three signs in a newborn baby allows us to suspect the likelihood of developing the syndrome. For accurate diagnosis we need more research (x-ray, etc.). According to their results, an effective treatment is chosen.
In a third of cases, the syndrome manifests itself additional symptoms:
- scoliosis of thoracic or cervical;
- the presence of folds of skin on both sides of the neck;
- weakness of the neck muscles, turning the head to the side;
- disease Sprengel – high arrangement of blades;
- anomalies of the hands (excessive number of fingers, hypoplasia of the ulna);
- anomalies (hypoplasia stop, etc.).
All of these symptoms are visible to the naked eyes, but is not dangerous to the baby’s life. In most cases, they do not affect his mental capacity or physical development. Much worse, if pathologies of the spine combined with the problems of the internal organs. Patients syndrome short neck is often found hypoplasia of moonvalley or cardiovascular system.
From the first of them there are the following pathologies:
- the absence or underdevelopment of the kidneys;
- incorrect positioning of the ureter;
- the accumulation of kidney liquids.
From the cardiovascular system can occur following defects: incorrect position of the aorta, displacement of the interventricular septum, etc.
In the most severe cases, the child is completely absent of any organ: the lung, the kidney or the ureter. This pathology is at least means a disability, and sometimes the threat of death.
Sometimes patients with syndrome short neck meet anomalies of the face: asymmetry, strabismus, cleft palate. In some cases, problems with vision or hearing.
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Diagnostic features of the disease
To put a final diagnosis and prescribe an effective treatment on the basis of only some external signs it is impossible. Patients are required to appoint an x-ray of the cervical and vermehrung spine. The results allow to identify the characteristic of the anomaly changes in the structure of the skeleton.
X-ray must be done with functional tests. The patient is asked to maximally bend and straighten the neck and make the “photo” of the spine in such “extreme points”. X-ray is carried out in direct and side projections.
X-rays may show the syndrome of Klippel-feil in three manifestations:
- fusion of the cervical vertebrae in a single whole with the occipital bone and with each other;
- insufficient number of vertebrae;
- abnormally small size of the vertebrae, the occurrence of extra cervical ribs.
X-rays used to confirm the suspected syndrome short neck, but it’s not enough to prescribe to the patient treatment. You need a neurological examination checking reflexes and assessing the mobility of the neck. You also need to conduct ultrasound of the kidneys and of the heart to detect any pathology in their development. If there are additional complaints from the patient or his parents (in the case of breast baby) he was sent for advice to narrow doctors.
Therapy dangerous disease
Syndrome, Klippel-feil, like other genetic disease, not amenable to complete removal. However, proper treatment helps to stop its development and make unpleasant symptoms less pronounced.
Doctors use two types of therapy: conservative and surgical. The first direction includes physiotherapy, massage, and execution of therapeutic exercises. These activities strengthen the muscular frame of the back, to enhance blood circulation in the cervical spine and normalize metabolic processes in the affected area.
Often treatment of these three methods is not sufficiently effective, because the patient begins to experience severe pain, caused by compression of nerve endings. In this case, he shows drug therapy: nonsteroidal anti-inflammatory and analgesic agents (sandal, combopass, etc.). With the unbearable discomfort it is possible to use novocaine and lidocaine blockades.
If the curvature of the spine, persistent pain and complications caused by compression of nerve endings, the patient is administered surgical treatment. Often performed cosmetic surgery, which carries the name “arvicolidae on Bonola”. Its essence is to restore the normal arrangement of the cervical muscles concerning the shoulder blades. It allows you to visually lengthen the neck and to increase the amplitude of head turns.
The essence of this surgical intervention – removal of the periosteum and of four upper ribs. These elements of the skeleton are in the wrong place and put pressure on internal organs. Such treatment requires a lot of time: first, the operation is performed with one hand and only after full recovery.
The recovery period lasts a few months. All this time the patient should keep still cervical. His head is fixed with a gypsum bed, or a special brace.
Syndrome-short neck – a severe genetic disorder that requires constant supervision by a surgeon or traumatologist. Its symptoms are visible to the naked eye, it perfectly demonstrates the x-ray. To prevent the development of complications and to smooth over the symptoms, patients must undergo regular courses of conservative therapy