Waardenburg Syndrome

by Sam Malone


When fertilization takes place as a part of reproduction, the genetic material from each parent is mixed together. This mixing of genetics provides the guide for the development of the unborn child. It is through the transfer of genetic information that parents transfer their traits to their children. During this process, it is possible for damaged genes to be passed on thus causing genetic disability in the new born. In some cases, carriers of damaged genes may not themselves suffer from the condition associated with that particular gene. However, if their partner has the same damaged gene or a recessive version of that gene, then it is possible that the defective gene gets passed on to the unborn child. In other genetic disorders, the gene is dominant in the carrier and manifests symptoms in the carrier. The recipient of these genes will also suffer from the condition. Some genetic disorders are considered to be common because their occurrence is well documented in a given sample of people. However, there are plenty of rare genetic disorders that may affect just a handful of people in any given population.

The Waardenburg Syndrome is one of the rare genetic disorders in humans. As the Waardenburg Syndrome classifies under rare genetic disorders, the likelihood of an individual encountering someone who experiences Waardenburg Syndrome symptoms is low. The Waardenburg Syndrome is actually characterized by a group of different genetic conditions. The Waardenburg Syndrome symptoms vary considerably from patient to patient. In some cases, there is an association between Waardenburg Syndrome and hearing loss. However, in other cases, Waardenburg Syndrome symptoms may be only associated with the physical appearance of the individual. One of the common Waardenburg Syndrome symptoms is the change in color of the skin of the patient. Patients suffering from Waardenburg Syndrome may have abnormally colored skin in some part of their body. Such people may also have patches of differently colored hair or differently colored eyes. In some cases, the Waardenburg Syndrome may result in abnormal facial features. In rare cases, one may also find that patients suffering from Waardenburg Syndrome experience slightly decreased intellectual functioning.

A summary of the Waardenburg Syndrome symptoms goes as follows. The common Waardenburg Syndrome symptoms include cleft lip, eye color that does not match, deafness or partial hearing loss, patches of white hair and poor intestinal function. Unlike some other rare genetic disorders, Waardenburg Syndrome may occur in an individual even if only one parent has the defective gene in his or her body.

Waardenburg Syndrome diagnosis is based on a number of tests that can be conducted on the patient. The Waardenburg Syndrome diagnosis may also be associated with a sampling of the genetic history of the patient. If either parent has the condition, then it is fairly easy to diagnose the condition in the child as well. The telltale Waardenburg Syndrome symptoms include the color of the eyes and the patch of white hair that forms on the scalp. Both these are usually associated with this condition itself. However, there are several tests that can be used for the Waardenburg Syndrome diagnosis.

An audiometry test is a test where the hearing ability of an individual is measured. The hearing ability of an individual is measured to check each ear and its functioning well or there is some hearing defects in the individual. Audiometry can even be used to check if there is a problem with the ear or if there is a problem with the transmission of signals from the normally functioning ear to the brain. The connection between the Waardenburg Syndrome and hearing loss means that audiometry is often required as part of the Waardenburg Syndrome diagnosis process. The audiometry test can be performed on any cooperative individual who is old enough to understand what is going on. For infants, electrodes may be used to measure the response of the brain when a particular sound is heard as infants cannot respond to the stimulus in the way that the person conducting the test might understand.

Poor intestinal function is a known symptom of the Waardenburg Syndrome. Therefore, patients who are suspected of suffering from this condition may undergo a test known as the bowel transit time test. In this type of test, the speed at which waste passes through the bowel is measured. Constipation is a known Waardenburg Syndrome symptom. Patients who display poor bowel function may be classified as suffering from Waardenburg Syndrome.

Genetic analysis in a laboratory is a definitive method of Waardenburg Syndrome diagnosis. When the patient has a few confirmed Waardenburg Syndrome symptoms, he or she may undergo genetic testing. This is done to ensure that the condition is properly diagnosed. Genetic testing for Waardenburg Syndrome is usually the last test conducted to remove any doubt about the diagnosis. There are a few different types of Waardenburg Syndrome which vary based on the type of symptoms experienced by the patient.

There is no known Waardenburg Syndrome treatment at the moment. Medical research continues to be conducted to search for ways in which the condition can be detected and corrected. However, at this stage, Waardenburg Syndrome treatment is restricted to the management of the symptoms experienced by the patient. Patients who experience hearing loss or hearing difficulties require the correct hearing aids to help them get over this disability. In some cases, patients may be extremely hard of hearing in which case special education methods may be needed for teaching to be imparted. In terms of the digestive issues related to the Waardenburg Syndrome, the Waardenburg Syndrome treatment involves the removal of foods that are difficult to digest and pass. Foods that have high fiber content are preferred as these tend to pass more freely through the digestive system. Medications may also be given to the patient to allow the bowels to loosen. This will allow the passage of fecal matter.

As the Waardenburg Syndrome is a rare genetic disorder, its treatment must be supervised by an experienced doctor. Regular medical tests may be needed to ensure that the patient is developing normally and is not being hindered by his or her medical condition.


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