Williams syndrome: symptoms, causes and treatment

This disease causes various symptoms, such as premature aging or intellectual disability.

The human being possesses approximately 25,000 genes within his organism. Despite this large number, only about thirty genes need to disappear for all kinds of congenital syndromes to arise.

One of these conditions is Williams syndrome, a rare disease that is categorized as rare.syndrome, a disease categorized as rare that confers to those who suffer it a series of characteristic facial features and an extroverted, sociable and empathic personality.

What is Williams syndrome?

Williams syndrome, also known as monosomy 7Williams syndrome, is a very rare genetic condition caused by a lack of genetic components on chromosome 7.

The first to describe Williams syndrome was the cardiologist J.C.P. Williams. Williams flawed a series of symptoms that formed a bizarre clinical picture. Among these symptoms were a delay in mental development, a very distinctive facial countenance, and a heart defect known as supravalvular stenosis. and a heart defect known as supravalvular aortic stenosis. Which consists of a narrowing of the aortic artery.

Interestingly, the German professor Alois Beuren described this same symptomatology almost simultaneously. Therefore, in Europe this disease is also known as Williams-Beuren Syndrome.

This rare genetic syndrome occurs in approximately one in 20,000 live births and affects both males and females.and affects both males and females in the same proportion.

What is its symptomatology?

The clinical picture of Williams syndrome is characterized by the following features a broad symptomatology affecting a large number of systems and functions of the body.. This symptomatology can manifest itself in the neurological, cardiovascular, auditory and ocular systems, and in facial features.

However, this symptomatology symptoms do not usually appear before the age of 2 or 3 years, and not all nor do all the symptoms described below tend to converge.

1. Neurological and behavioral symptoms

• Mild to moderate intellectual disability.
• Mental asymmetry: difficulties may appear in some areas, such as the psychomotor area, while others remain intact, such as language.
• Highly developed sense of musicality.
• Affable and affectionate personality: uninhibited, enthusiastic, enthusiastic children. Uninhibited, enthusiastic and prefer to be around people..
• Slow development of motor skills and language acquisition, which varies from person to person.

2. Facial characteristics

• Short and slightly upturned nose.
• Narrow forehead.
• Skin growth around the eyes.
• Protruding cheeks.
• Small jaw.
• Altered dental occlusion.
• Bulky lips.

Cardiovascular symptoms

In 75% of the cases narrowing of the supravalvular aorta and pulmonary artery.. However, alterations may appear in other arteries or Blood vessels.

Endocrine-metabolic symptoms

• Delayed development of the endocrine system.
• Transient hypercalcemia Transient hypercalcemia during childhood..

Musculoskeletal symptoms

• Spinal problems.
• Low muscle tone.
• Relaxation or contractures in the joints.

Skin symptoms

Decrease in elastin which causes signs of early signs of premature aging.

Digestive system symptoms

• Chronic constipation.
• Tendency to inguinal hernias..

Symptoms of the genito-urinary system

• Tendency to urinary tract infections
• Nephrocalcinosis.
• Tendency to nocturnal enuresis.
• Tendency to the formation of diverticula or abnormal cavities that form in the digestive tract.

Ocular symptoms

• Myopia.
• Strabismus.
• Stellate iris.

Auditory system symptoms

• 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 on band 7q 11,23.. This gene can come from either parent and its size is so small that it is barely detectable under the microscope.

However, despite the genetic origin of the syndrome despite the genetic origin of the syndrome, it is not inherited.. The reason is that the alteration in the genetic material occurs before the embryo is formed. That is, this loss of material comes along with the egg or sperm that will form the fetus.

Although there is still a lot of misinformation about Williams syndrome, it has been discovered that one of the genes that is not found in the chromosome is the one in charge of synthesizing elastin. The lack of this protein would be the cause of some symptoms such as stenosis, the tendency to suffer from hernias and hernias.the tendency to suffer hernias or signs of premature aging.

How is it diagnosed?

The early detection of Williams syndrome is paramount so that parents have the opportunity to so that parents have the opportunity to plan their child's treatment and follow-up options, as well as to avoid the accumulation of tests and examinations that need not be essential.

Today, more than 95% of cases of Williams syndrome are diagnosed early using molecular techniques. The most commonly used technique is known as fluorescence in situ hybridization (FISH), during which a reagent is applied to a portion of chromosome 7 DNA. (FISH), during which a reagent is applied to a portion of DNA from chromosome 7.

Is there a treatment?

Due to its genetic origin, no specific specific treatment for Williams syndrome has not yet been established.. However, specific interventions are carried out for those symptom clusters that pose a problem for the person.

It is necessary that a multidisciplinary group of professionals is in charge of the treatment of Williams syndrome. Within this team there should be neurologists, physical therapists, psychologists, psychopedagogists, etc.etc.

In order to integrate these people both socially and in the workplace intervention is required through developmental therapy, speech and language therapy, and occupational therapy.and occupational therapy. There are also support groups for parents or family caregivers of people with Williams syndrome where they can find advice and support for care and day-to-day living.