Humans have around 25,000 genes in their bodies. Despite this high number, only around 30 need to go away for all types of congenital syndromes to appear.
One of these conditions is Williams syndrome, A condition classified as rare which gives 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 very low incidence genetic disease caused by a lack of genetic components on chromosome 7.
The first to describe Williams syndrome was cardiologist JCP Williams. Williams defected with a series of symptoms that formed a strange clinical picture. Among these symptoms was delayed mental development, a very distinctive facial resemblance and a heart defect known as supravalvular aortic stenosis. Which 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 strange genetic syndrome occurs in about one in 20,000 girls and boys born alive, And affects men and women in the same proportion.
What are your symptoms?
The clinical picture of Williams syndrome is characterized by the presentation a broad symptomatology that affects a large number of systems and functions of the body. This symptomatology can manifest itself both neurologically, cardiovascular, in the auditory and ocular systems and in facial features.
However, this symptomatology it usually doesn’t appear until you are 2 or 3 years old not all of 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 zone, while others remain intact, such as language.
- Highly developed sense of musicality.
- Affectionate and affectionate personality: boys and girls uninhibited, enthusiastic and with a preference for being around people.
- Slow development of motor skills and language acquisition, which varies from person to person.
2. Features of the face
- Short and slightly curved nose.
- narrow front.
- Growth of the skin around the eyes.
- protruding cheeks.
- Small jaw.
- Altered dental occlusion.
- voluminous lips.
In 75% of cases narrowing of the supravalvular aortic artery and pulmonary artery occurs. However, changes can occur in other arteries or blood vessels.
Endocrine metabolic symptoms
- Delay in the development of the endocrine system.
- usually appears transient hypercalcemia in childhood.
- Column problems.
- Low muscle tone.
- Relaxation or contractures of the joints.
Decrease in elastin which causes signs of premature aging.
Symptoms of the digestive tract
- Chronic constipation.
- Tendency to inguinal hernias.
Symptoms of the genitourinary system
- Tendency to urinary tract infections
- Tendency to bedwetting at night.
- Tendency to form diverticula or abnormal cavities that form in the digestive tract
- Star iris.
Symptoms of the hearing system
- Hypersensitivity to sounds hyperacusis.
- Tendency to ear infections during childhood.
What are the causes of this syndrome?
The origin of Williams syndrome is in loss of genetic material on chromosome 7, specifically in band 7q 11.23. This gene can come from either parent, and its size is so small that it can hardly be detected under a microscope.
however, despite the genetic origin of the syndrome, it is not hereditary. The reason is that the alteration of genetic material occurs before the embryo is formed. In other words, this loss of material is accompanied by the egg or sperm that will form the fetus.
While 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 the synthesis of elastin. The lack of this protein would be the cause of certain symptoms such as stenosis, The tendency to suffer from hernias or signs of premature old age.
How is it diagnosed?
Early detection of Williams syndrome is essential so that parents have the opportunity to plan treatment and follow-up options for the child, as well as to avoid the accumulation of tests and explorations that are not necessarily essential.
Today, more than 95% of cases of this syndrome are diagnosed early using molecular techniques. The most widely used technique is fluorescent in situ hybridization (FISH), in which a reagent is applied to a portion of DNA on chromosome 7.
Is there a treatment?
Due to its genetic origin still no specific treatment has been put in place for Williams syndrome. However, specific interventions are made for the groups of symptoms that the person has a problem with.
A multidisciplinary group of professionals should be in charge of the treatment of Williams syndrome. Within this team, we must find neurologists, physiotherapists, psychologists, educators, etc.
In order to integrate these people both socially and professionally it requires intervention by developmental therapy, language, And occupational therapy. There are also support groups for parents or caregivers of people with Williams syndrome where they can find advice and support for day-to-day care and care.