Human beings have approximately 25,000 genes inside their bodies. Despite this large number, only about thirty need to disappear for all kinds of congenital syndromes to arise.
One of these conditions is Williams syndrome , a disease categorized as rare that confers on those who suffer from it a series of characteristic facial features and an outgoing, sociable and empathetic personality.
What is Williams syndrome?
Williams syndrome, also known as monosomy 7 , is a genetic condition of very low incidence, caused by a lack of genetic components on chromosome 7.
The first to describe Williams syndrome was cardiologist J.C.P. Williams. Williams defected a series of symptoms that formed a strange clinical picture. Among these symptoms were a delay in mental development, a very distinctive facial appearance and a defect in the heart known as supravalvular aortic stenosis. This consists of a narrowing of the aortic artery.
Interestingly, German Professor Alois Beuren described this same symptomatology almost simultaneously. So in Europe this disease is also known as Williams-Beuren Syndrome.
This rare genetic syndrome appears in approximately one in 20,000 live births , and affects both men and women in the same proportion.
What are his symptoms?
The clinical picture of Williams syndrome is characterized by the presentation of a wide range of symptoms that affect a large number of systems and functions of the body . This symptomatology can manifest itself at the neurological and cardiovascular levels, in the auditory and ocular systems, and in facial features.
However, this symptomatology does not usually appear before the age of 2 or 3 years and neither do all the symptoms described below tend to converge.
1. Neurological and behavioral symptoms
- Mild or moderate intellectual disability.
- Mental asymmetry: difficulties may appear in some areas, such as the psychomotor area, while others remain intact, such as language.
- A highly developed sense of musicality.
- Affectionate and loving personality: boys and girls uninhibited, enthusiastic and preferring to be surrounded by people .
- Slow development of motor skills and language acquisition, which varies from person to person
2. Facial characteristics
- Short, slightly upturned nose.
- Narrow front .
- Growth of the skin around the eyes.
- Protruding cheeks .
- Small jaw.
- Altered dental occlusion.
- Full lips .
In 75% of the cases there is a narrowing of the supravalvular aorta and the pulmonary artery . Nevertheless, alterations may appear in other arteries or blood vessels.
- Delayed development of the endocrine system
- Transient hypercalcemia during childhood usually occurs.
- Column problems .
- Low muscle tone.
- Relaxation or contractures in the joints.
Decrease in elastin causing signs of early aging .
Symptoms of the digestive system
- Chronic constipation.
- Tendency to inguinal hernias .
Symptoms of the genito-urinary system
- Urinary tract infection tendency
- Nephrocalcinosis .
- Tendency to nocturnal enuresis.
- Tendency to form diverticula or abnormal cavities that form in the digestive system
- Starry iris .
Symptoms of the hearing system
- Hypersensitivity to sounds or hyperacusis.
- Tendency to ear infections during childhood.
What are the causes of this syndrome?
The origin of Williams syndrome is found in a loss of genetic material on chromosome 7, specifically in the 7q band 11.23 . This gene can come from either parent and is so small that it is barely detectable under the microscope.
However, despite the genetic origin of the syndrome it is not hereditary . The reason is that the alteration in the genetic material occurs before the formation of the embryo. In other words, this loss of material comes together with the egg or sperm that will form the foetus.
Although there is still a lot of misinformation about Williams syndrome, it has been discovered that one of the genes not found on the chromosome is the one responsible for synthesizing elastin. The lack of this protein could be the cause of some symptoms such as stenosis , the tendency to suffer from hernias or signs of premature aging.
How is it diagnosed?
Early detection of Williams syndrome is paramount so that parents have the opportunity to plan the child’s treatment and follow-up options, as well as to avoid the accumulation of tests and scans that need not be essential.
Today, more than 95% of cases of this syndrome are diagnosed early using molecular techniques. The most widely used technique is known as fluorescent in situ hybridization (FISH), during which a reagent is applied to a portion of DNA on chromosome 7.
Is there a treatment?
Due to its genetic origin, no specific treatment has yet been established for Williams syndrome . However, specific interventions are made for those symptom clusters that pose a problem for the person.
A multidisciplinary group of professionals is needed to treat Williams syndrome. This team should include neurologists, physical therapists, psychologists, educational psychologists , etc.
With the aim of integrating these persons both on a social and work level , intervention is required through developmental, language and occupational therapy .
There are also support groups for parents or family members caring for people with Williams syndrome in which they can find advice and support for care and day-to-day living.