Short neck syndrome

Medicine knows of a rare pathology called short neck syndrome or Klippel-Feil syndrome.

This article will provide you with an understanding of this disease and answer a number of questions.

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Causes short neck syndrome

Doctors say that the causes of short neck syndrome that have been established to date are:

1. A genetic chromosome defect (change in chromosome 8, 5 and/or 12) that a child receives while still in the womb. This pathology occurs as early as the eighth week of pregnancy. Medicine distinguishes two types of inheritance of short neck syndrome: autosomal dominant (more common) and autosomal recessive.
2. Spinal cord injury.
3. Birth trauma.

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Pathogenesis

Short neck syndrome has another medical name - Klippel-Feil syndrome. The essence of the pathogenesis of this disease is the abnormal fusion of the vertebrae of the neck and/or vertebrae of the upper chest.

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Symptoms short neck syndrome

Klippel-Feil syndrome can be easily recognized even by a person far removed from medicine. The symptoms of short neck syndrome are as follows:

1. The neck is deformed.
2. Movement is limited.
3. Visually, the head grows directly from the shoulders (brevicollis).
4. Low border of the beginning of the hairline on the head.

Other rare symptoms may also be observed:

1. Facial asymmetry.
2. Scoliosis.
3. The skin of the neck is wrinkled.
4. Hearing loss.
5. Cleft palate ("cleft palate").
6. Decreased muscle tone.
7. Overstrain of the muscles of the cervical-occipital region.
8. The shoulder blades are positioned higher than normal.
9. Complete or partial muscle paralysis.
10. Neck curvature.
11. Pain in the cervical spine.
12. Wing-shaped folds on the neck.
13. Neuropsychiatric disorders (sleep disorders).

It is not difficult to notice the first signs of the anomaly. Visually, there is no neck, the cheeks "lie" simply on the shoulders. Often combined with Sprengel's disease.

During or after childbirth, the obstetrician-gynecologist delivering the baby or the neonatologist examining the baby can immediately recognize the presence of short neck syndrome in the newborn.

Complications and consequences

The consequence of this defect may be the destruction of bone tissue in the cervical region, the appearance of severe pain symptoms. Compression or damage to nerve roots and blood vessels occurs, which causes the appearance of various neuralgic problems and leads to oxygen starvation of brain cells. The consequences of short neck syndrome may also manifest themselves in weakening of vision or hearing impairment.

Complications of short neck syndrome include:

1. Scoliosis.
2. Deafness.
3. Ophthalmological problems.
4. Anomalies in the development of the lower and upper limbs: foot deformity, absence of the ulna, development of an additional phalanx, and so on.
5. Malformations of internal organs that can lead to death: heart defects, kidney and/or liver pathology.
6. Disruption of the central and peripheral nervous system.

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Diagnostics short neck syndrome

A neonatologist can already suspect the presence of an anomaly during the first examination of a newborn. Diagnosis of short neck syndrome involves conducting and analyzing the results of a number of measures:

1. Identifying the history of the disease, whether anyone in the family has a similar anomaly.
2. Examination by a neurologist: presence of neck curvature, level of its mobility, analysis of other symptoms.
3. Genetic research.
4. Consultation with a geneticist or neurosurgeon is possible.

Instrumental diagnostics

To establish a complete clinical picture of changes in the patient’s body, instrumental diagnostics are also carried out, which includes:

1. X-ray of the cervical and upper thoracic spine in an upright position.
2. X-ray of the same area, but with the neck maximally bent and maximally arched (spondylography).
3. Ultrasound of internal organs:
   • Heart - possible ventricular septal defect.
   • Kidneys – one of the paired organs may be absent.
4. ECG.

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Differential diagnosis

The doctor carries out differential diagnostics of the anomaly, excluding diseases, the symptom of which may be short neck syndrome, but not included in the clinical picture, the results of the tests and studies.

Klippel-Feil syndrome is differentiated from the following pathologies:

1. Fusion of two or more cervical vertebrae.
2. Anatomically small size of the cervical vertebrae.
3. Absence of one or more cervical vertebrae.
4. Combination of forms of features.

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Treatment short neck syndrome

Short neck syndrome is usually treated by an osteopathic physician. When diagnosing a developmental anomaly of the cervical vertebrae, non-surgical methods of therapy are ineffective, but complex treatment still includes:

1. To eliminate pain, one of the drugs with analgesic properties is prescribed.
2. Symptomatic drug treatment.
3. Physiotherapy exercises that help improve mobility in the affected area of the spine and increase muscle tone.
4. Massage.
5. Preventive or corrective wearing of a special collar (Schanz collar).
6. Physiotherapeutic procedures (electrophoresis, paraffin heating).

But the main and most effective method of treating short neck syndrome is surgical intervention. The surgeon has a method of correcting the anomaly - cervicalization according to Bonola.

The essence of the treatment of short neck syndrome is to prevent the destruction of the cervical vertebrae and the subsequent development of secondary, sometimes irreversible, disorders in the human body.

Physiotherapy treatment

Prescribing physiotherapy will certainly not rid the patient of short neck syndrome, but will help improve its mobility and activate blood circulation in this area. Electrophoresis has a neuro-reflexive and humoral effect on the affected area.

The essence of the procedure is to conduct ions of the drug, which are impregnated with the electrode pads, into the affected area of the body using small electric currents. Penetrating into each cell, the drug begins to affect the biochemical processes occurring in the body. Depending on the pharmacological group to which the drug belongs, pain relief, relief of inflammation and muscle tension occur.

Paraffin applications warm the neck area, activating blood flow, which improves metabolism in the brain structures. Such compresses, as prescribed by a doctor, can also be done at home:

1. Make a template from oilcloth for applying hot paraffin. It should cover the collar and neck area.
2. Heat the baking tray in the oven. Take it out and lay the template on its surface.
3. Heat the paraffin in a container in a water bath and apply it to the prepared pattern. Place the resulting paraffin collar on the patient's neck and collar area, covering it with a woolen scarf or blanket.
4. The procedure takes from half an hour to an hour, depending on the doctor’s recommendation.

Surgical treatment

The main and most effective method of correcting anatomy disorders of the cervical vertebrae is surgical treatment of short neck syndrome - cervicalization according to Bonola.

During this operation, the surgeon removes the 1st - 4th ribs, and in some cases the periosteum. The operation is performed under general anesthesia. The specialist makes a paravertebral incision between the inner edge of the scapula and the spinous process of the spine. The rhomboid and trapezius muscles are cut off from the side of the scapula and the 1st - 4th upper rib is resected. First, these actions are performed on one side of the spine, then on the other.

The surgical site is placed in a plaster corset for the healing period. As healing progresses, it is replaced with a special collar - a head support.

Prevention

Prevention of short neck syndrome is impossible due to the heredity of the pathology. The only recommendation that a doctor can give - if there are relatives in the family suffering from this anomaly - is to conduct a medical and genetic examination of the couple planning to have a baby. This will allow you to assess in advance the level of risk of having a child with Klippel-Feil syndrome.

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Forecast

If short neck syndrome is not accompanied by malformations of internal organs, the prognosis is favorable. If the changes affect the organs and systems of the body, then the further condition of the patient's body depends on the severity of the accompanying diseases.

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