Waardenburg syndrome is a group of genetic disorders which is evident from birth (congenital). The syndrome causes deafness, change in color of skin, hair and eye. Waardenburg condition is named after a Dutch eye doctor, Petrus Johannes Waardenburg (1886-1976) who was the first person to notice patients suffering from hearing loss and change in color of eyes.
The main cause of waardenburg syndrome is due to inheritance from one parent which is passed to the child. This inherited condition is seen in autosominal dominant pattern, which does mean that one copy of altered gene is more than enough to cause this disorder in human body. The symptoms of waardenburg syndrome are different in each case.
Waardenburg Syndrome – Symptoms
Here are the key identifiable symptoms –
Pale blue eyes or colors of both the eyes does not match
Wide set eyes
Early graying of hair or white patch of hair
Slight decrease in intellectual function
Pale color skin
Difficulty completely straightening joints
Types of Waardenburg Syndrome
There are mainly four types of waardenburg syndrome, which is distinguished by genetic causes and by physical characteristics.
In type 1 eye are widely spread but hearing loss is seen less.
Type 2 is very much similar to type 1, patients suffer more with deafness.
Type 3 is also known as Klien-Waardenburg syndrome, in which abnormalities are seen in upper limbs, hearing loss and changes in pigmentation.
Type 4 is called Waardenburg-Shah syndrome, in which signs and symptoms of both waardenburg and Hirschsprung disease, that causes intestinal disorder which results to severe constipation or intestine blockage in the patients.
The diagnosis of Waardenburg syndrome is done though following various procedures-
Family History-The syndrome is diagnosed by the review of family history. The three generations review is usually covered e.g., if in the family grandparent is having with grey hair in front of the forehead and at the same time parent or child may have wide eye with different colors. It is very important to diagnose this syndrome though family history. Clinical rules out other disease conditions are made easy by diagnosing waardenburg syndrome through family history.
Clinical Assessment of the physical features- This syndrome is well diagnosed by the presence of clinical features. But it has been seen that clinical features are not always present in all types of waardenburg syndrome. There are certain signs and symptoms that are always present in this particular syndrome and any of these types of sign or symptoms would be a signal the clinical and would be the condition of waardenburg syndrome.
Radiologic examination- Hearing impairment or deafness is been evaluated though radiologic examination which are present in some forms of waardenburg syndrome. The most popularly called tomography is used to evaluate the hearing impairment. This particular examination helps the clinical rule respectively.
Gene Isolation- Gene isolation is a common procedure which truly confirms the presence of waardenburg syndrome. Gene isolation and genetic studies identify the location of mutation and affected gene.
Audiometry tests- Ability to hear sounds are examine through audiometry tests. It is known that sounds waves are stimulates the inner ear nerves and only then hearing occurs in human body. In this test sounds are based on intensity and sound wave vibrations.
Bowel transit time- This particular test is performed by consuming two gelatin capsules with meals. These capsules are filled with colored food dye. After taking this capsule bowel movement is noticed and is seen that how long does it takes to appear. It is then noticed that how long it takes to disappear of color from the stool. This test is not at all harmful when performed to the patients. Although the patient does notice the capsule is moving though the digestive system.
Apart from these diagnoses done for waardenburg syndrome colon biopsy is also done.
The treatment of waardenburg syndrome is yet to be found The most likely symptom is deafness and commonly, the treatment is geared towards managing this symptom.
Although genetic counseling will be very much helpful if people are having history of this syndrome. Counseling must be done before planning to have children so that this syndrome is not passed to them after their birth. After birth of a child, if hearing loss is discovered then hearing test must be performed.
Waarenburg Syndrome – Life Expectancy
The life expectancy is normal and people can expect to live a life beyond 70 years of age. It is important to manage and treat the symptoms associated with the condition to maintain the longevity.
Waardenburg Syndrome in animals
Waardenburg syndrome is also found in animals. This animal is affected with this syndrome usually have white stripe and solid white head starting from nose and down towards the shoulders, which is commonly known as panda coat pattern. The skull of this animal is flat in shape and also has wide eyes. Deafness is not noticeable in ferrets but they do react to loud music or sound. This disorder is very comfortably spread to their offspring. They are reputable breeders and will never breed in private. In US, 75% of ferrets have white head or white blaze. They are sold as pets and are normally deaf.
These domesticated cats are usually deaf and have white coats with blue eyes. But it is still not clear that they are suffering from waardenburg syndrome. In 1980’s it has been taught in genetic classes that genes responsible for deafness and white coat are linked with each other, which is seen in large number in these cats who have white color coat with blue eyes and are deaf.