Hypertelorism is an abnormally large distance between the eyes that does not necessarily have pathological value. When the phenomenon is present in the context of malformation syndromes, it has pathologic significance and is usually due to a genetic mutation. Treatment of hypertelorism is usually not indicated, but may improve the quality of life of the affected person in cases of severe hypertelorism.
What is hypertelorism?
In medicine, when organs are unusually far apart, the term hypertelorism is used. The term can generally be used to describe any pathologically large distance between organs. However, the term is used particularly frequently in relation to the eyes and then stands for an unusually wide interocular distance. This is usually a congenital phenomenon that can be symptomatic of various malformation syndromes with predominant involvement of the face. By definition, hypertelorism is said to occur whenever the distance between the centers of both pupils is more than 97 percent-percentile above the distribution in the normal population. The average interpupillary distance of women is 65 millimeters. For men, the average value is 70 millimeters. Any values above this average are hypertelorism. The phenomenon does not have to have a disease value. The opposite of ocular hypertelorism is ocular hypertelorism, which is abnormally low interpupillary distance.
Causes
Not all hypertolerism has pathologic value. The cause of symmetric hypertelorisms is usually a physiologic abnormality. Asymmetric hypertelorisms usually have pathologic value and refer to malformation syndromes with predominant facial involvement. The cause of these disorders is a genetic one. In most cases, they are based on a gene mutation. For example, severe hypertelorism is a symptom of catcry syndrome, Wolf-Hirschhorn syndrome, Zellweger syndrome, triploidy, Noonan syndrome, and Gorlin-Goltz syndrome. Equally well, the phenomenon may be characteristic of Fraser syndrome. Hypertelorism has also often been documented in the context of trisomy 14, Edwards syndrome, trisomy 22, and LEOPARD syndrome. The same is true for De-Grouchy syndrome, Mabry syndrome, Crouzon disease and Dubowitz syndrome or Down syndrome. Furthermore, Alagille syndrome and ATR-X syndrome are associated with hypertelorism. In the context of the aforementioned syndromes, ocular hypertelorism is usually associated with a variety of other facial dysmorphisms. Patients with ocular hypertelorism are asymptomatic in many cases. This is especially true when the hypertelorism is isolated and only mild. In this context, medicine speaks of an anomaly without disease value. Even pronounced hypertelorism does not necessarily impair the function of the eyes. However, the phenomenon is often associated with strabismus. Hypertelorism is even more frequently associated with telecanthus. This is an abnormally large distance between the outer angles of the eyes. Against the background of hypertelorism there is no primary, but a secondary telecanthus. Large hypertelorisms are perceived as cosmetic impairment and may show mainly psychological symptoms as accompanying symptoms. In the context of the syndromes mentioned above, hypertelorism is usually associated with other malformations of the face. Which these are depends on the primary disorder and its genetically causative mutation.
Diseases with this symptom
- Squint
- Cat Cry Syndrome
- Trisomy 22
- LEOPARD syndrome
- De Grouchy syndrome
- Barber-Say syndrome
- Alagille syndrome
- ATR-X syndrome
- Wolf-Hirschhorn syndrome
- Trisomy 14
- Edwards syndrome
- Down syndrome
- Zellweger syndrome
- Noonan syndrome
- Gorlin-Goltz syndrome
- Fraser syndrome
- Crouzon Syndrome
- Dubowitz Syndrome
Diagnosis and course of the disease
The doctor diagnoses pronounced hypertelorism by eye gaze diagnosis. In less pronounced cases, the interpupillary distance must be measured as part of the diagnostic process.If it is above the average values, hypertelorism is present. Whether this hypertelorism is a disease depends on the general picture of the patient. If additional facial malformations are present, the physician determines the individual symptoms as part of the diagnostic process and begins to investigate the cause. Molecular genetic analysis may be required for this purpose. The prognosis of isolated and mild hypertelorism is excellent. Pronounced hypertelorism often has psychological consequences. If a syndrome is present, the prognosis depends on the nature of the causative mutation. Hypertelorism of the organs has a slightly less favorable prognosis.
Complications
Hypertelorism, an increased distance between the eyes, is symptomatic of many different genetic diseases. One example of a condition is feline cry syndrome. Affected children suffer from underweight, small head, muscle weakness and heart defects. However, life expectancy is not much affected. However, the children suffer from mental and physical disabilities, and those affected usually do not have an IQ above 40. Down syndrome (trisomy 21) can also be the cause of hypertelorism. Affected individuals have an increased risk of thyroid disease. This includes both hypothyroidism and hyperthyroidism. In addition, children with Down syndrome are more likely to develop leukemia later in life. Vision problems and infertility are also among the complications of this disease. Life expectancy is approximately 60 years. Edwards syndrome (trisomy 18) is also a cause of hypertelorism. Affected children have a severely shortened life expectancy of only a few days to a few weeks. Only a few children live to be a few years old. The children have a congenital heart defect, especially in the cardiac septum, so that heart failure occurs quickly. In addition, Zellweger syndrome is also a possibility. This peroxismal disease is usually recognizable by distinct signs on the face of the newborn. In addition, there are cysts that form in the brain. Life expectancy is very poor and affected individuals live barely a year.
When should you go to the doctor?
The term hypertelorism refers to an abnormally large distance between the two eyes. Hypertelorism is rarely a disease in the form of a hereditary malformation. Hypertelorism is not necessarily a reason to see a doctor. In some cases, however, hypertelorism can have the character of a disability in that it impairs the quality of life. Asymmetric – i.e. not side-symmetric – hypertelorism also has the effect of a disease. A control visit to the ophthalmologist is recommended even in the case of a subjectively not impairing hypertelorism. In case of discomfort caused by hypertelorism, a visit to the ophthalmologist is self-evident anyway. Hypertelorism can lead to strabismus, which can be treated by visiting a so-called vision school and with corrective glasses. Occasionally, surgery may be indicated. Due to a possible stronger facial malformation, hypertelorism can also be psychologically stressful. Therefore, the consultation of a psychologist or psychotherapist should be considered. Since it is not possible to surgically reduce the interpupillary distance and thus correct hypertelorism, therapeutic discussions can help those affected to cope better with their situation.
Treatment and therapy
Hypertelorism does not necessarily require intervention. If the patient is asymptomatic and does not feel affected by the abnormal interpupillary distance, there is usually no therapy. If there is a particularly pronounced interpupillary distance, the hypertelorism can be surgically corrected. This is especially true if the patient develops psychological problems. If necessary, psychotherapy is applied first against psychological problems in order to avoid unnecessary invasive treatment of the patient. If the patient still perceives the hypertelorism as a severely impairing blemish despite psychotherapeutic care, surgical correction takes place. With the correction, the quality of life of the affected person improves. However, in the context of malformation syndromes, the correction of hypertelorism is usually put on the back burner. The primary treatment of these syndromes consists in the therapy of life-threatening symptoms.Hypertelorism of internal organs is somewhat different. While these do not necessarily require correction either, intervention is somewhat more likely to be indicated in this case. Hypertelorism of organs can also be corrected by surgical procedures. The affected organs must be repositioned primarily when the widened distance interferes with their function.
Outlook and prognosis
In some cases, hypertelorism does not lead to complications and is only an aesthetic symptom that is sometimes undesirable. However, in many affected individuals, hypertelorism also results in facial deformities. This has a negative effect on self-esteem and can lead to severe social and psychological problems. Sometimes this leads to depression. In addition to the malformations, there is damage to organs. Here, patients may have a weak heart or weak muscles. The head itself is also shaped differently, and underweight often occurs. The underweight is thereby promoted by the underfunction of the thyroid gland. Due to these symptoms, the affected person suffers from a reduced quality of life, which can be further reduced by visual disturbances and hearing impairment. Children suffer greatly from the heart defects. In them, heart failure can occur, which in the worst case can lead to death. The treatment is primarily on the physical level and ensures the stability of all organs and functions of the body. However, no success can be guaranteed here. If the patient complains only about the unusual distance between the eyes, treatment is not necessary. In this case, it is solely an aesthetic sensation.
Prevention
Hypertelorism is usually not acquired, but occurs as part of malformation syndromes. These disorders have a genetic basis. Therefore, genetic counseling during the family planning phase can be largely described as a preventive measure.
What you can do yourself
Hypertelorism does not necessarily need to be treated. Some measures help against the everyday problems associated with excessive interpupillary distance. For example, talking with friends and family members helps counteract lowered self-esteem as a result of the abnormality. A severely debilitating blemish can be worked through as part of therapeutic interventions. Special glasses reduce the hypertelorism and allow the affected person a comparatively normal everyday life despite the malposition. In addition, the deformity can only be reduced by surgical measures, insofar as it does not regress on its own in the course of puberty. Genetic counseling in the context of family planning reveals possible risk factors and facilitates subsequent treatment of the child. The risk of inheriting hypertelorism can be reduced by not taking antiepileptic drugs in early pregnancy. In addition, hypertelorism must be treated depending on the syndrome. An effective home remedy does not exist for hypertelorism, but typical accompanying symptoms such as atrophy, strabismus/strabismus, or hyperreflexia can be alleviated by appropriate therapeutic measures. The most effective means of self-help is the early clarification of the anomaly by an ophthalmologist.
