What is hypertelorism? Causes and symptoms

Hypertelorism is a term that means pathologies characterized by an excessive increase in the distance between two paired organs. In most cases, in modern medical practice, ocular hypertelorism is diagnosed, but other pathological changes are possible. We will talk about this later in the article.

What is hypertelorism?

hypertelorism is

The indicated term is quite often found in medical documents. Hypertelorism is, as already mentioned, pathology, which is accompanied by an increase in the distance between two paired organs. It is worth noting that this definition began to be used not so long ago - for the first time in official publications it appeared in 1924.

So, in medicine, such a pathology as hypertelorism of the nipples is known. In this case, there is a violation of the so-called nipple index - an indicator that is determined by the ratio between the circumference of the chest at the level of the nipples and the distance between them. Pathology is not independent and often develops against a background of congenital malformations, for example, Apert syndrome, Edwards disease.

orbital hypertelorism

But most often there is orbital hypertelorism - an ailment in which there is a pathological increase in the distance between the orbits. This condition is congenital - it is diagnosed in the first days after the birth of a child.

What are the causes of pathology

Hypertelorism of the eyes is a congenital pathology, which, as a rule, is associated with various genetic diseases. For example, too wide-spaced eye sockets are observed in children with nephrofibromatosis, Apert, Down, Toast, Edwards and other ailments, which are accompanied by multiple fetal malformations. The immediate causes include various anomalies in the structure of the brain or skull - this is the presence of tumors, too fast fusion of parts of the skull, craniocerebral hernias and crevices.

Of course, we can highlight some risk factors that can disrupt normal intrauterine development or provoke a fetal genetic pathology. So, the child’s infections are negatively affected by the mother during pregnancy, as well as the ingestion of toxins, including heavy medications, large doses of alcohol, narcotic substances, etc.

Hypertelorism: photos and related symptoms

hypertelorism photo

It is worth saying that hypertelorism has different degrees - in some patients the eyes are only slightly displaced, while in others they are widely set and the doctor can notice a defect after the first glance at the child. Such children have very characteristic features of the structure of the face:

  • Pathologically large distance between the inner sides of the orbits.
  • Often there is a deformation of the palpebral fissures - they may have an irregular shape, be asymmetric or greatly narrowed.
  • There is also a characteristic structure of the nose - its back is flat and the nose is wide.
  • Often, along with hypertelorism in children, strabismus, various visual impairments, deformation of the optic nerve, and problems with smell are diagnosed.

Unfortunately, the above genetic symptoms are characterized not only by a violation of the structure of the facial part of the skull. Often in children, there is deformation of the feet, improper development of the jaws, impaired intellectual development.

Diagnostic methods

hypertelorism of the nipples

Of course, in this case, it is very important to correctly diagnose, because you need to determine the presence of a particular genetic disease. For this, the doctor calculates the interorbital-circumferential index, which is determined by dividing the measured head circumference by the distance between the internal corners of the eye cracks, after which the resulting figure must be multiplied by 100. Pathology is usually said to be when the index exceeds 6.8 .

Next, a history of parents and genetic studies are collected. In addition, the child must be prescribed magnetic resonance or computed tomography of the head - this procedure allows you to detect bone abnormalities and the presence of neoplasms in the brain.

Pathology treatment

If we talk about hypertelorism, then specific treatment is required only if there is a serious threat to the organs of vision and nerve endings. In this case, surgical intervention is recommended. During the procedure, the doctor performs plastic surgery of the skull bones. But of course, the specialist makes the decision to conduct such an operation, paying attention to many factors, including the condition of the child and the presence of concomitant diseases. Surgical intervention, as a rule, is carried out until the patient reaches two years of age - at this time the operation gives the most optimal result.

As for systemic treatment, it is aimed at correcting the primary disease. Drug therapy also depends on this.

hypertelorism of the eyes

Pathology prevention and prognosis for patients

Hypertelorism is rather an aesthetic defect. The danger is represented by the syndromes and diseases that are accompanied by this violation. Therefore, the defect itself is not a threat to the life of the child. The only exceptions are those cases when the degeneration of the orbits affects the patient's vision.

As for prevention, unfortunately, there is no specific means of preventing the described ptology. To reduce the risk of intrauterine diseases, women during pregnancy are advised to carefully monitor their health, eat right, give up smoking, alcohol, drugs and potentially dangerous medicines.

Pregnancy planning should also be treated responsibly and not abandon planned counseling with a geneticist. Some hereditary diseases can be diagnosed during intrauterine development. And genetic studies during pregnancy planning help determine the likelihood of a child having one or another deviation.


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