Williams syndrome is a rare neuro-developmental disorder which was first described in 1961 by Williams, as well as by Beuren during the same time period. It is a rare genetic disease that occurs 1 in 7,500 – 20,000 cases of normal births in the United States. Some of the characteristics of the syndrome manifest at birth, others later in life.
What is the cause for its manifestation?
The underlying pathology in its development would be the deletion of almost 25 genes from chromosome 7 and it gives rise to a deficiency of elastin which is required to form many types of tissues. But not all manifestations are due to the reduced elastin levels as many other metabolic derangements can also be present in these patients.
What are the salient features of Williams syndrome?
Williams syndrome is characterized by the presence of a characteristic facial appearance, anomalies in the cardiovascular system, high levels of serum calcium which couldn’t be associated with any other cause such as nutrition, as well as several other neuro-developmental manifestations.
What are the common symptoms of this condition?
Some of the facial features that might be present in these patients would be a flat nasal bridge, long philtrum, widely spaced teeth, small chin, full lips, wide mouth, lax and soft skin while the nails would also be hypoplastic. It should be remembered that, not all patients with Williams syndrome will present with all these features, but they would have at least few of them.
As time passes, these children will show developmental delay and learning disabilities, they will be overly talkative and highly sociable, and some may have cognitive impairments. It is also possible to detect a heart murmur as an incidental finding as these patients are likely to suffer from supra valvular aortic stenosis. Although this doesn’t cause many symptoms at birth, it can lead to many other complications later in life.
Patients with Williams syndrome are also likely to suffer from hyperacusis, in which they become highly sensitive to certain ranges of frequency. This can lead to an event of phobia as they become agitated and anxious when such frequencies are being heard.