Williams syndrome ("Elf faces"): causes, symptoms, treatment

Williams syndrome, causes, diagnosis, the treatment of which will be considered in our article, is a rather rare congenital pathology, the original reason for the appearance of which researchers have still not been able to solve. It was named after the cardiologist J. Williams, who described it in detail in 1961. But to the first name, due to the characteristic features of the appearance of patients, one more thing is often added: “Elf's face”.

Because of what pathology develops

Williams syndrome (“Elf faces”) is a genetic disease associated with abnormalities in the fetal chromosome set. Namely, with the loss of the site (deletion) of the seventh chromosome. The lost so-called “long arm of the chromosome” contains about 26 genes, which is associated with the characteristic features of this disorder (although for most of them the relationship with the symptoms present in the disease has not yet been established).

In addition to the fact that on the damaged part of the chromosome there are genes that are responsible for how the brain will develop and function, there are genes that are responsible for the synthesis of elastin protein. And this leads to the fact that in children with the described syndrome there are not only behavioral, intellectual and psychological problems, but also vascular anomalies, as well as congenital heart defects (stenosis of the aorta and pulmonary artery, which can occur individually or together) .

What do patients with Williams syndrome look like

The appearance of people diagnosed with Williams syndrome (“Elf faces”) is distinguished by special features:

• they have low-lying eyes, surrounded by swollen eyelids (which is especially noticeable when a person laughs);
• a large mouth with puffy lips and a malocclusion;
• very wide forehead;
• the nose is short, with a flat nose bridge and a round blunt tip;
• the chin is slightly pointed;
• low-set ears;
• convex nape;
• bright blue eyes (eyeballs also have a bluish tint)

The voice in such patients is usually low and hoarse.

But not all of these signs can be found in one person. For an accurate diagnosis of the disease, the presence of three typical features is sufficient.

How to recognize Williams syndrome ("Elf's face")

In addition to the characteristic appearance, in patients with Williams syndrome there are also noted the features of the development of higher nervous functions, which lead to the appearance of specific features in the psyche.

1. Violation of sensory integration (a process in which the nervous system receives signals from touch, vestibular apparatus, smell, vision, taste and hearing). In this case, the sensitivity to sound in patients is increased.
2. Patients are impulsive, easily excitable, very sociable (sometimes even obsessively), their mood is unstable (in medicine, this feature is characterized as emotional lability).
3. They have increased anxiety, a fear of everything new is noticeable.
4. Characteristic violations of the ability to pronounce sounds (expressive speech) and perception of what was said (impressive speech).
5. During the training of such patients, problems with the assimilation of mathematical actions are noticeable.

Moreover, the way mental retardation is manifested in such children looks unusual. Their speech, as a rule, is well developed for their age, expressive and emotionally colored, in addition, they have obvious musical abilities: absolute hearing, excellent sense of rhythm and excellent musical memory. They can spend a long time diligently engaging in playing musical instruments or listening to works, but they hardly focus on any other things.

Psychology features of patients with "Elf syndrome"

One of the bright qualities of the "elves" is their sociability. Children suffering from this syndrome, without fear, approach a stranger, easily show sympathy and are always ready to help. Their speech murmurs in a stream, they are smiling and friendly. Researchers explain this peculiarity by the specifics of the work of the amygdala of their brain, because of which such people react very sharply to the kind expression of their interlocutor, and they simply don’t perceive evil facial expressions.

If the baby is diagnosed with "Elf's face" (Williams syndrome), then you should know that this will be a direct, naive child who does not know how to take into account the situation and is prone to foolishness. And he will mask his intellectual insufficiency under relatively preserved speech activity and good articulation, although often such children speak out of place, violating the semantic side of what was said.

Some more interesting features of "Elves"

Researchers studying Williams syndrome ("Elf's face"), the causes and symptoms of this disease, found that people suffering from it have special selectivity in the perception of visually obtained information.

So, if you show this patient a photo of the bicycle and offer to redraw the image, he will do it with great accuracy, without missing a single trifle. True, the steering wheel, wheels and pedals will be scattered all over the sheet. But in the case when the same task needs to be performed with the image of a person’s face, he will be at his best, contriving, in addition, to photograph the character of a person is no worse than a good psychologist.

Diseases that accompany "Elf Syndrome"

Unfortunately, the disease "Elf's face" (Williams syndrome) is manifested in many deviations that accompany the underlying disease. So, in children with this pathology, as a rule, teeth erupt late, and in adulthood they look elongated and rare. In addition, patients have a tendency to caries, the bite is broken, and the folding of the mucous membrane of the cheeks is changed.

Children with this syndrome in the first years of life gain weight very poorly and grow slowly, but in the future many of them become full and are characterized by friability of the body. Up to a year old, “elves” suffer from hyprecalcemia, which develops due to increased absorption of calcium from the intestine.

In adult patients, a characteristic feature can be considered X-shaped legs, narrow chest, low waist and an elongated neck. Williams syndrome (“Elf faces”) is often accompanied by excessive joint elasticity, which is manifested in their increased extensibility, as well as flat feet and clubfoot. Various disorders in the functioning of the musculoskeletal system are also detected. Umbilical and inguinal hernias are quite common, in some patients there is a congenital dislocation of the hip.

How is Elf Syndrome treated?

Patients with a diagnosis of Williams syndrome (Elf’s face) receive treatment only in the form of symptomatic therapy, since genetic diseases today do not have specific treatment.

Glucocorticoids (Hydrocortisone) are prescribed for infants who are admitted to a hospital with severe hypercalcemia, and adult patients are usually advised to constantly monitor their blood calcium levels and vitamin D intake, which increases their calcium levels.

Children with this syndrome require intensive work with a psychologist. Contact with healthy children is also of great importance for such patients, as it creates positive dynamics for them in their overall development.

Forecast

Patients diagnosed with Williams syndrome ("Elf faces"), as a rule, live slightly less than ordinary people. Experts attribute this to a rather high level of calcium in the blood, entailing early calcification of arteries and heart muscle. And 75% of patients also have a narrowing of the aorta directly above the heart, which in some cases requires surgical intervention. By the way, due to the high risk of developing cardiovascular diseases, regular preventive examinations are recommended for these patients.