In the Waardenburg Consortium developed major and minor criteria for diagnosis. A clinical diagnosis of type 1 Waardenburg syndrome needs 2 major, or 1 major and 2 minor criteria.
Genetic sequencing of the PAX3 gene for mutations causing Waardenburg syndrome may be performed as part of genetic counselling of family members. Prenatal testing for PAX3 mutations is possible by chorionic villus sampling or amniocentesis , but is rarely done due to the clinical variation found within Waardenburg syndrome and the mutation will not indicate which clinical features will be present or their severity.
As Waardenburg syndrome is a genetic disease there is no curative treatment. Genetic counselling may be helpful for affected patients who want to start a family. The clinical features of Waardenburg syndrome are stable and the features will remain throughout life. Life expectancy is normal. See smartphone apps to check your skin. DermNet NZ does not provide an online consultation service.
If you have any concerns with your skin or its treatment, see a dermatologist for advice. Waardenburg syndrome — codes and concepts open. All eight children are totally normal; however, the seventh child died by the age of 1. Only one cousin of our patients has Down syndrome; no mental disabilities are found in the history of this family. Although a congenital SNHL diagnosis for the six siblings was made at an early age, unfortunately no artificial cochlear implantation was performed or hearing aid provided.
The family could not commit to attending the rehabilitation center and the communication skills sessions because of the distance from their home they live in the countryside , their poor financial circumstances, and the 6 years of war they had lived though. The seven siblings have the ability to read lips; however, a speech therapist was consulted after their last visit. Petrus Johannes Waardenburg, a Dutch ophthalmologist, was the first to describe the rare inherited disorder in [ 1 ].
It has no racial or ethnic predilection and has an equal male to female ratio [ 2 ]. To diagnose WS , five major and five minor diagnostic criteria have to be established.
The major criteria include sensorineural hearing loss, a white forelock, pigmentary disturbance of the iris, dystopia canthorum lateral displacement of the inner eye corners , and first-degree relatives diagnosed with WS.
Minor criteria include congenitally hypopigmentation of the skin, medial eyebrow flare synophrys , hypoplastic alae nasi, prominent broad nasal root, and early graying of hair before the age of The clinical diagnosis of WS requires at least two major criteria or one major and two minor criteria [ 1 , 2 , 3 , 4 , 5 , 6 ].
According to the diagnostic criteria proposed by Waardenburg, there are three features of major criteria in this case: sensory neural hearing loss SNHL , abnormal pigmentation of the iris, and diagnosed first-degree relatives. There is also one minor feature, that is, prominent broad nasal root. WS is a full clinical picture, that is, every case is unique in its features. The differential diagnosis of WS is in accordance with the main features in our patient.
In fact, the congenital SNHL was the main issue for our patient and his six siblings. The other criteria complete the clinical picture, but they are not the main problems that affect their lives.
Some individuals with WS are affected by congenital deafness. Such hearing impairment appears to result from abnormalities or absence of the organ of Corti [ 3 , 4 , 5 ]. Hearing loss in WS has a congenital, sensorineural character, and is usually non-progressive, varying from slight to profound [ 3 , 4 , 5 ]. However, in rare cases, only one side may be affected.
In our case, all six siblings have bilateral congenital profound sensorineural hearing loss which was proven by auditory brainstem response test ABR , since this test was available.
By contrast, with our patient, we could not perform an ABR for him, whereas an ear examination by otoscope showed normal structures and an OAEs and a PTA were performed and revealed a deep sensory hearing loss.
A hearing aid is required as well as a speech therapist consultation. Some reports suggest that heterochromia irides may be more frequent in WS2. The affected individuals may have unusually pale blue eyes or differences in the pigmentation of the two irides or within different areas of the same iris heterochromia irides [ 4 ]. The bilateral blue iris is the most prominent feature in these patients. Iris heterochromia may be complete or partible. In complete heterochromia each iris is a different color, while in partial heterochromia the differently colored area of the iris is sharply demarcated from the remainder and is usually, but not invariably, a radial segment.
Partial heterochromia may be unilateral or bilateral and, if bilateral, may be symmetrical or asymmetrical [ 3 , 4 , 5 ]. An interesting aspect is that the three types of pigmentary disturbances of iris are found in our case. A regular ophthalmic examination is recommended to follow up any probable lesions.
Hypopigmentation of the skin is congenital and may be found on the face, trunk, or limbs. It may be associated with an adjacent white forelock, which can present before the age of 30 years. Hyperpigmentation has also been described. Pigmentation defects can affect the eyebrows and eyelashes as well as scalp hair [ 5 ]. In the history of the six siblings there was a dermatology consultation.
A new consultation for them as well our patient revealed no skin or hair lesions. The four types of WS are: type 1 and type 2 are the most common and often similar in clinical manifestation [ 1 ]. Across types, most people have :.
Most people with Waardenburg syndrome have normal hearing, but hearing loss can occur across all four types. Some people with Waardenburg syndrome experience other abnormalities, primarily affecting the shape of various body parts.
Some of the most common ones include:. Symptoms vary substantially within types, but Type 3 tends to be the most debilitating. In addition to the typical symptoms of Waardenburg syndrome, people with type 3 may experience :. The syndrome of diseases is not contagious, cannot be treated with medications, and cannot be caused by lifestyle or developmental factors.
Mutations in at least six genes are linked to Waardenburg syndrome. These genes help the body form various cells, especially melanocytes. Melanocytes are the cells that help give the skin, hair, and eyes their pigment. The specific mutation a person has will determine the type of Waardenburg syndrome they develop. Types 1 and 3 follow an autosomal dominant pattern of inheritance. Autosomes are chromosomes that are not sex chromosomes.
Dominant means that a person only needs to inherit one copy of a gene mutation to develop the disease. Most people with type 1 or 3 have a parent with the disorder. Types 2 and 4 also follow a dominant inheritance pattern, but can also be inherited according to a recessive genetic pattern.
This pattern requires two copies of a gene mutation and makes inheritance less likely. Both inheritance patterns mean that a person is more likely to have Waardenburg syndrome if a parent or other close relative, such as a grandparent, has the disorder. Recessive genes can hide for several generations, however, so not all people with Waardenburg syndrome have a living family member with the disorder. Waardenburg syndrome is a rare disease, affecting about 1 in 40, people.
Around 2 to 5 percent of all cases of deafness caused by gene abnormalities are the result of the syndrome. Though rare, Waardenburg syndrome may be common in a family because it is genetic.
Doctors may also test babies for Waardenburg syndrome if they develop a hearing loss. From Genetics Home Reference. Description Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in coloring pigmentation of the hair, skin, and eyes. Frequency Waardenburg syndrome affects an estimated 1 in 40, people. In some cases, the genetic cause of Waardenburg syndrome has not been identified. Inheritance Waardenburg syndrome is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Other Names for This Condition Waardenburg's syndrome. Genetic and Rare Diseases Information Center Waardenburg syndrome Waardenburg syndrome type 1 Waardenburg syndrome type 2 Waardenburg syndrome type 3 Waardenburg syndrome type 4. Research Studies from ClinicalTrials. References Milunsky JM. Waardenburg Syndrome Type I. Worldwide distribution of Waardenburg syndrome.
Ann Otol Rhinol Laryngol.
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