All you need to know about Waardenburg Syndrome

All you need to know about Waardenburg Syndrome
All you need to know about Waardenburg Syndrome

The most common symptoms of Waardenburg's syndrome are depigmented skin and open eyes. Another symptom that appears frequently is the presence of white hair. In many cases, a person suffering from this condition may have eyes in two different colors. This is known as iritic heterochromia. Heterochromia iriana can be encountered without the presence of Waardenburg syndrome. In the case of many newborns, Waardenburg's syndrome is noticeable from birth.

In other cases, signs of the syndrome are only apparent after a certain amount of time. The symptoms of Waardenburg syndrome differ depending on the type of affection. Symptoms of type 1 syndrome Symptoms of Type 1 syndrome include: - Large and distant eyes; . Symptoms of type 2 syndrome Symptoms of type 2 syndrome resemble those of type 1 syndrome, with the exception of the presence of large and distant eyes. Symptoms of type 3 syndrome Type 3 syndrome is also known as Klein-Waardenburg syndrome.

People who suffer from this type of syndrome may have hand and arm abnormalities, finger-like abnormalities. Symptoms of Type 4 Syndrome Type 4 syndrome is also known as Waardenburg-Shah. His symptoms are very similar to those of type 2 syndrome. People who suffer from this type pose frequently causing constipation. Syndrome types depend on how gene mutations occurred.

For example, type 1 and type 3 syndromes are triggered by mutations in PAX 3 genes on chromosome 2q35. Mutations from any of these genes disrupt the normal development of melanocytes. These are a type of pigment-producing cell. Melanocytes cause, skin and eyes. It also plays an essential role in the normal functioning of the internal ear.

Waardenburg's syndrome is hereditary. In most cases, the affected person has a parent or even both with this condition. In rare cases, the mutation that causes this type of syndrome occurs spontaneously. Individuals who are only affected by a copy of the mutant gene may not show signs of Waardenburg syndrome. People who suffer from Waardenburg syndrome have a 50% risk of passing the genes on.

Waardenburg's syndrome affects about 1 out of 42. 000 people. This represents 1 to 3 percent of all cases of congenital hearing loss. Both genders and all types of race are equally vulnerable to Waardenburg's syndrome. Types 1 and 2 are the most common, while types 3 and 4 are the least common.

Waardenburg's syndrome can be recognized by changes in pigmentation of the skin, eyes and hair or even in some cases by hearing loss. The main criteria for establishing the diagnosis are: - Irritant heterochromia, when the eyes have two completely different colors or when one or both eyes have two different segments - Hair - Severe ocular anomalies - Parents or siblings with Waardenburg syndrome. Among the minor criteria for diagnosis are: - white spots on the skin that originated from birth - united eyebrows - wide root of the nasal pyramid - incomplete development of the nares - gray hair before the age of 30. Diagnosis of Waardenburg Type 1 Syndrome requires two major or one major criteria and two minor criteria. As for the diagnosis of type 2 syndrome, it requires two major criteria, not including severe eye abnormalities.

There is no real remedy for Waardenburg syndrome. Most symptoms do not require treatment. If the loss of hearing of the inner ear is present, cochlear implants may also be used. As with any medical condition, seeking an assessment and treatment for hearing loss as early as possible will help develop child language and educational progress. If intestinal problems associated with type 4 syndrome are present, then it may be necessary.

In this case, the affected part of the intestine can be removed surgically to improve digestion. For white hair there is hair paint that helps cover them. In some cases, white portions due to hypopigmentation can be treated with various topical topical ointments, which help to reduce abnormal hair coloration. Also some cosmetics can be helpful. If hypopigmentation affects more than half the body, depigmentation treatments are the best solution.

These treatments help reduce abnormal pigmentation. All of these options should be carefully discussed with a patient familiar with treating Waardenburg's syndrome and other conditions similar to this. People who suffer from Waardenburg Syndrome can lead a normal lifestyle. Usually, there are no other complications other than hearing loss or the occurrence of Hirschsprung disease, which causes intestinal problems. The physical features specific to the syndrome will remain for life.

However, there are skin treatments, hair dyes or contact lenses that help improve physical appearance. Also, it is remembered that white patches on the skin favors appearance. It is extremely important to protect the skin from sun exposure. If you suspect that you suffer from Waardenburg syndrome and are planning to build a family, it is advisable to consult a geneticist and investigate this. .

Source : sfatulmedicului.ro

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