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Unusual Diseases: Elven Face Syndrome (or Williams Syndrome)

They are very cute, these kids: large bright blue eyes under swollen eyelids, a wide forehead, a small upturned nose, a large mouth with full lips, often stretched out in a smile, and a small sharp chin. So depict elves – mischievous mythical little men of German-Scandinavian and Celtic folklore. And by nature, these children are similar to elves: sociable, friendly fidgets, loving music.

Unfortunately, all of the above features are symptoms of a congenital genetic disease, and by these signs it was called “elven face syndrome”, or Williams syndrome. (John Williams is a pediatric cardiologist from New Zealand who has identified a connection between the characteristic “elven” face and the delay in intellectual development.)

Elven Face Syndrome is a poorly understood disease. It is known that it is caused by a defect in the 7th pair of chromosomes – the loss of a portion of one of the chromosomes. Why this happens is hard to say. But this is not related to heredity. That is, a child with an elven face can appear in perfectly healthy mothers and fathers, possibly due to poor environmental conditions, or a harmful profession, or other negative effects of harmful factors. But this defect also arises absolutely without reason.

As already mentioned, one of the symptoms of the syndrome is mental retardation, and then mental retardation of varying severity.
Kids with Elven Face Syndrome are physically weak up to two or three years old and lagging behind peers. They eat poorly, they often have diarrhea and constipation, vomiting, so they are behind in weight. Then the physical condition is leveled, but the child’s intellectual development slows down: he begins to speak late – only at three years old, to build phrases – at four to five years old.

Difficulties with coordination arise in such children: the baby is awkward and impetuous in movements, it is not easy for him to master even simple skills, for a long time he is not able to take care of himself.

Later, at school age, children with elven face syndrome have learning problems. It is difficult for them to concentrate, they are difficult to learn mathematics, writing, and reading, but spoken language is well developed: they speak expressively, emotionally, even poetically. In addition, they have an absolute ear for music and a sense of rhythm. They master musical instruments, even without knowing the notes, sing, listen to music with pleasure.

Psychologically, a child with elven face syndrome is characterized by hyperactivity, impulsivity, excessive sociability, and the ability to empathize. At the same time, he suffers from increased anxiety, often with various phobias (fear of loud sounds).

Along with mental retardation in these children, serious physical pathologies are found: teeth are often affected by caries, there are flat feet or clubfoot, disorders in the musculoskeletal system. Most suffer from diseases of the heart and blood vessels.

If in infancy, children with Williams syndrome lost weight, then later they gain extra pounds and may be obese. In adults, diabetes, hypothyroidism, and elevated levels of calcium and cholesterol are often diagnosed.
To date, there are no ways to combat Williams syndrome. Doctors can only give general recommendations to parents of children with this pathology.

Up to a year:

exclude preparations with vitamin D and calcium;
pay special attention to the transition to solid foods.
From one to five years:

control the work of the stomach, prevent the occurrence of constipation;
engage with a speech therapist;
engage in physiotherapy exercises.
In primary school age:

adhere to a proper diet, maintain constant physical activity so that the child does not gain excess weight;
use psychological and (if necessary) drug methods to reduce the child’s anxiety.
Teens:

help a teenager gain independence;
to encourage his physical and motor activity;
regularly shown to doctors;
observe the state of his psyche.
When dealing with an elf child, it is necessary to take into account its features: difficulties with concentration, increased activity, desire to fool around. Therefore, for classes you need to create a calm environment, and free the room from everything that can distract his attention. Communicating with healthy children is very beneficial for children suffering from this syndrome – this can improve their mental development.

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