Waardenburg Syndrome: Treatment, Procedure, Cost and Side Effects

Waardenburg Shah syndrome, Waardenburg-Klein syndrome

Waardenburg syndrome, which refers to a rare genetic condition, is generally characterised by loss of hearing, changes in colour (or pigmentation) of the eyes, skin and/or hair. This medical condition also includes minor defects in the structures which arise from the neural crest such as melanocytes, craniofacial cartilages and bones, peripheral and enteric neurons and other smooth muscles. This syndrome got its name after the Dutch ophthalmologist, Petrus Johannes Waardenburg, who first identified it in 1951.

Waardenburg syndrome, being a congenital disorder, is seen to affect a person, right from his/her birth. There is no cure for this condition but the symptoms can be managed with proper treatment. Researches have shown that every 1 out of 40,000 people is affected by Waardenburg syndrome. However, only 2 to 5 percent of such patients have been reported to suffer from congenital hearing problems. The symptoms of this problem generally vary among the patients, even if they happen to belong to the same family.

Mutations in genes like EDN3, EDNRB, MITF, PAX3, SNAI2, and SOX10 are identified as the cause of Waardenburg syndrome. Such genes play an important functional role in the synthesis of various types of cells like pigment-producing cells called melanocytes. Mutation in any of these genes interferes with the normal formation of melanocytes, thereby causing abnormal colouration of the eyes, skin, hair and difficulties in hearing.

Generally, four types of Waardenburg syndrome have been recognized and can be distinguished on the basis of their characteristics as well as the underlying genetic cause. Types I and II are more or less similar. However, patients having Waardenburg syndrome type I are seen to have widely spaced eyes in comparison to those having the syndrome of type II. Moreover, hearing loss is more common among people having the syndrome of type II. Type III involves abnormalities related to arms along with hearing loss and abnormal pigmentation. Type IV, on the other hand, show symptoms of both Waardenburg syndrome and Hirschsprung disease and often leads to severe constipation and other intestinal problems. However, Waardenburg syndrome of type I and II are more common in comparison to type III and IV.

The most common symptoms of patients suffering from Waardenburg syndrome include changes in vision, changes in colouration of the eyes, coloured patches on the skin, premature graying of hair or even graying of hair in patches, abnormally shaped uterus, small size of colon, wide nose, a cleft palate, white or gray eyelashes and eyebrows, unusually small head (microcephaly), intellectual disability, abnormally shaped craniofacial bones and partial or complete loss of hearing.

Based on the appearance of a newborn baby, the doctor may suspect whether the child has Waardenburg syndrome and may recommend for the necessary tests if the child develops partial or complete loss of hearing. For most cases Waadenburg syndrome is diagnosed during infancy, though for a few patients it may remain undetected for several years.

Diagnosis of Waadenburg syndrome involves testing of DNA samples extracted from the blood of the patient. Genetic mutations associated with Waardenburg syndrome can be found out by screening the DNA at the laboratory. Such DNA screening can also detect genetic aberrations, even within the growing baby, during pregnancy of a woman. However, such DNA tests cannot figure out the severity of the symptoms that the patient may possibly suffer from.

It must be kept in mind that Waardenburg syndrome cannot be cured but the symptoms can be managed with proper treatment. The treatments which are commonly given to such patients suffering from Waardenburg syndrome include providing hearing aid or cochlear implant, surgery in order to remove intestinal blockages, providing colostomy bag in order to support intestinal health, surgical treatment to correct cleft palate and/or cleft lip, provision of developmental support such as special schools to help children who have hearing disabilities, cosmetic changes like dying the hair or using other makeups to conceal unusual skin pigment. Family counselling and proper education can also help such patients lead a normal life.

Any individual having symptoms like changes in vision, changes in colouration of the eyes, coloured patches on the skin, premature graying of hair or even graying of hair in patches, abnormally shaped uterus, small size of colon, wide nose, a cleft palate, white or gray eyelashes and eyebrows, unusually small head (microcephaly), intellectual disability, abnormally shaped craniofacial bones and partial or complete loss of hearing may be suspected to be suffering from Waardenburg syndrome and is eligible for this treatment. Such a disorder is usually diagnosed in infants based on their appearances, though a few patients have also been reported to remain undetected for several years.

Any individual who is absolutely normal, does not suffer from any congenital disorders or is not suffering from any symptoms of Waardenburg syndrome, is considered as not eligible for this treatment.

There are no such specific side effects for the treatment of Waardenburg syndrome. It is important to remember that Waardenburg syndrome is not curable but the symptoms can be managed with proper care. The various problems that the patient (having this condition) suffers from, needs to be dealt with individually. Each treatment might have its own side effects. A person undergoing this treatment must consult with their doctor in case they happen to suffer from any side effects.

Waardenburg syndrome is not curable but the symptoms can be managed with proper treatment. The post treatment guidelines involve taking proper care of such children throughout their life, provision of developmental support such as special schools to help children who have hearing disabilities, cosmetic changes like dying the hair or using other makeups to conceal unusual skin pigment. Family counselling and proper education can also help such patients lead a normal life. In case of any further problem, it is recommended that the patient should be taken to a doctor for any necessary treatment.

Waardenburg syndrome is a genetic disorder that appears in a patient right from their birth. Unfortunately, this syndrome cannot be cured. However, the symptoms of such a disorder can be managed with proper treatments.

Treatment for Waardenburg syndrome involves several treatment procedures which are meant only to reduce the symptoms of this disorder. The normal cost of consulting any doctor (regarding this problem) ranges from Rs. 300 to Rs. 800 in India. The cost of any other treatment is additional. On an average, the total cost of treatment given to such patients ranges from Rs 5,12,000 to Rs. 9,50,000 in India.

Waardenberg syndrome is a genetic disorder and affects an individual right from their birth. There are no known ways to cure this condition. However, the symptoms can only be managed with proper treatment. The various treatments along with proper care and counselling help such patients to live a normal life.