This syndrome was described back in 1947 by Waardenburg. It is characterized by a whole complex of defects - a combination of congenital deafness, albinism, facial abnormalities. This disease is accompanied by abnormal hypopigmentation of the skin, eyes and hair. It is impossible to completely cope with such a syndrome, therefore, the treatment is usually aimed at eliminating symptoms and overall maintenance of the body.
The syndrome of Waardenburg
The syndrome of Waardenburg is a hereditary pathology that is accompanied by iridescence of the iris, the appearance of the gray hair strand, the displacement of the inner part of the eye - it is called the telecant. One of the characteristic symptoms of the disorder is congenital hearing loss, which can differ in different degrees of severity.
The displacement of the inner part of the eye in combination with the raised back of the nose and the eyebrows connected in a single line gives a very peculiar appearance to people with this syndrome. Iridescent shells usually have a different color. For example, one eye can be carim, while the other can be blue.
Reasons for
As a rule, this pathology is inherited by an autosomal dominant type. To the development of the syndrome lead mutations in some genes - in particular, EDNRB, EDN3, MITF, PAX3.Individual history does not confirm the family history. In this case, we are talking about a genetic mutation, the development of which provokes unknown factors.
The MITF gene is responsible for the encoding of a protein that plays a significant role in the formation of melanocytes. As a result, pigmentation changes occur. Sometimes these anomalies lead to hearing loss.
The risk group for the development of this disorder includes children whose immediate relatives have the disease. It is transmitted by an autosomal dominant type.
In some cases, the syndrome of Waardenburg develops for unknown reasons. A number of researchers argue that the threat increases the advanced age of the father.
Treatment of symptoms of
The syndrome of Waardenburg can be detected immediately after birth or in early childhood. In some cases, it is found at a later age. A thorough clinical examination and analysis of symptoms helps to make an accurate diagnosis. Also, the doctor should study the family history and conduct specific studies.
In people with suspected such a diagnosis, the distance between different parts of the eye is measured. Other procedures may also be carried out - for example, examination of the internal structures of the eyes. Often, a hearing test is required and a radiograph is performed.
Sometimes doctors advise cochlear implantation. In this case, a special device with electrodes is placed in the inner ear. This helps stimulate the functioning of the auditory nerve.
Photo of children with different manifestations of the syndrome of Vaardenburg
Typical manifestations of the disease
One of the main signs of the syndrome is congenital deafness. It manifests itself at an early age and often provokes the appearance of deaf-mute. Two-sided pathology is always striking sounds of high frequency.
The following are also typical of the manifestations of the disease:
- Congenital iris of the iris - may be complete or partial. Often the iris has a different color.
- Dystopia of the inner parts of the eyes - it leads to blepharophimosis. This condition provokes pseudo-hypertelorism, and in some cases - pseudoepicanth.
- Extension of the root of the nose.
- Hypertrophy of eyebrows.
- Partial albinism - manifested as a patch of gray hair in the forehead. In more rare cases, white eyelashes and eyebrows are seen from the inside.
Symptoms and genetics of the syndrome of Waardenburg in our video:
The syndrome of Waardenburg is a rare disease that is accompanied by a number of pathological changes. One of the symptoms of an anomaly is congenital deafness, which can lead to dumbness. To cope with this sign, you need to take action in time. In most cases, this symptom is removed by surgical intervention.