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Case Study of the Week : Waardenburg Syndrome

Many of us are not familiar of with the word Waardenburg Syndrome; even we nurses are not quite familiar with this kind of disease. As I explore my medical dictionary, I found out what’s Waardenburg syndrome is. Waardenburg is an inherited deafness. Some experts called it as Klein-Waardenburg syndrome or Shah-Waardenburg syndrome. But I’m not contented with that explanation, so I decided to investigate more about this ailment and here are my findings. Waardenburg syndrome is a rare disease characterized by deafness in association with pigmentary anomalies and defects of neural crest-derived tissues. It is an inherited form of deafness accompanied by a characteristic white forelock of hair and multiple colors with in the irises of the eyes. It was considered a inherited disease as an autosomal dominant disease, when we say Autosomal dominant- it is a gene or corresponding characteristics whose effect is shown in the individual whether its allele (one or two alternative forms of gene) is the same or different. This disease was named after a Dutch ophthalmologist in the person of Dr. P. J. Waardenburg.

As I dig up the details of this ailment, I found out that it has six (6) main features. The following are the features of Waardenburg syndrome; first there is a lateral displacement of the medial canthi combined with dystopia (weakness of wasting) of the lacrimal puncta and blepharophimosis (small aperture between the eyelids); second, a prominent broad nasal root; third, a hypertrichosis (excessive growth of hair) of the medial part of the eyebrows; fourth, white forelock; fifth, heterochromia iridis (color difference in iris of eye) and last, deafmutism. Some experts have formulated hypothesis regarding this syndrome, they explained that there was a deficient neural crest theory, suggesting a developmental abnormality of the neural crest as a cause of the disease. Others believed that Waardenburg is a part of the first arch syndrome and the intrauterine necrosis theory. But some experts alleged none of these possibilities explains all features of this disease. They believed that inherited causes account for approximately 50% of individuals seen for childhood hearing loss, of which 70% are due to mutations in numerous single genes that impair auditory function alone. But one thing I’m really sure of, genes are the ones who is responsible for syndromic forms of hearing loss in Waardenburg syndrome which includes PAX3 on band 2q37, observed in types I and III, and MITF mapped on 3p12-p 14.1 for type II. This syndrome is autosomal dominant for most persons with types I, II, or III. Waardenburg type IV is autosomal recessive with variable penetrance.

According to studies children with Waardenburg syndrome have a usual life expectancy. Morbidity is related to deafness and to deficiency of neural crest-derived tissues, including mental retardation, seizures and eye disorders. Waardenburg syndrome affects people of the same sex in all races worldwide and can be recognized immediately or soon after birth. Histologic findings revealed that melanocytes are absent, or that only a few dihydroxyphenylalanine-positive cells are present. In other word the number of melanocytes on the edge of the leukodermas is reduced or missing who’s responsible for the pigmentation. So, how can we manage this? Is there a treatment on this disease? Early diagnosis and improvement of the hearing defect are most important for the psychological development of children with this disease. The depressing part of this is that there is no effective treatment available for persons with Waardenburg syndrome. Tolerance and understanding of persons with Waardenburg syndrome may help to support their integration into society. Other experts suggest that genetic counselling is a good idea for patients with this ailment.

1 Response
  1. Anonymous Says:

    Funny, I am an RN who happens to have neurologic shah waardenburg and yet when I worked in the OR (yes deaf) I never felt I was diseased...only unique due to my congenital disorder. Perhaps you can learn more by asking questions of those who have this rare life condition such as myself.

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