Williams syndrome is a group of genetic defects caused by a mutation within chromosome 7. It was described in 1961 by the New Zealand cardiologist J. C. P. Williams. People with Williams syndrome are often referred to as children of elves, or children of elves, due to their specific facial features.

Williams-Beuren syndrome, Williams-Beuren syndrome, often referred to as children of elves or children of elves, occurs with a frequency of 1 / 10,000-1 / 20,000 births.

Most cases of this syndrome are described as sporadic, which means that there have been no other people with this syndrome in your family. The disease occurs with a similar frequency in girls and boys.

Williams syndrome (children of elves): causes

In the missing fragment of the chromosome there are 26-28 genes, of which a very important role is assigned to the elastin gene (ELN gene), as well as to the genome responsible for cognitive functions.

The elastin protein is an essential element of elastic fibers present in the connective tissue of many organs.

The deletion of the elastin gene explains some of the characteristic phenotypic features of Williams syndrome patients, such as facial features, hoarse voice, a tendency to diverticulitis and bladder, cardiovascular disease, and orthopedic problems.

The pathogenesis of the other features of the syndrome, such as hypercalcemia, mental retardation, and personality traits remains unknown.

Williams syndrome (children of elves): symptoms

Williams syndrome is a syndrome of many birth defects, such as:

  • "elf" face - facial dysmorphism, which consists of characteristic auricles, wide forehead, long nasal groove, thick lips, deep nose bridge, pendulous cheeks; in most children, the irises are blue and sometimes (rarely) green with a "lacy" pattern; these features become apparent at the end of the first or second year of life
  • incorrectly developed teeth with enamel defect, large jaw, small lower jaw
  • hypersensitivity to sounds, which in adulthood may lead to deafness
  • defects of the heart and blood vessels are found in about 80% of people with Williams syndrome - supravalvular aortic stenosis is the most common; in infantsoften there is a narrowing of the peripheral pulmonary arteries; it is worth emphasizing that the narrowing can also affect many other vessels, such as renal, coronary, cerebral arteries, thoracic or abdominal aorta
  • hypertension occurs in half of the patients; it can start already in childhood; the most common causes of hypertension are changes in the kidney vessels or the abdominal aorta
  • hypercalcemia and / or hypercalciuria in 15-30%, i.e. increased blood calcium levels and increased urinary calcium excretion
  • ophthalmic disorders; hyperopia and strabismus are common, and in adults cataracts
  • endocrine disorders such as glucose intolerance, diabetes and hypothyroidism are observed more often than in the he althy population
  • defects of the kidneys and urinary system, as well as kidney stones, due to the increased excretion of calcium in the urine
  • low rise; most children with Williams syndrome are shorter than their peers, grow more slowly and do not reach average height
  • thick, hoarse voice
  • ligament laxity
  • intellectual disability or intelligence at the lower limits of the norm
  • a kind disposition and love of music, and often even absolute hearing
  • enlarged amygdala (the structure in the brain responsible for, among others, fear control), therefore patients show increased confidence in previously unknown people; they talk a lot and willingly, have a rich vocabulary, original way of expressing themselves
  • other behavioral and mental disorders such as mania and a tendency to unfounded fear of certain situations; some children seem distracted, have attention disorders and hyperactivity
  • cognitive disorders - the degree of their intensity varies among patients

Williams syndrome (children of the elves): diagnosis

Williams syndrome can be suspected on the basis of clinical features. The most common reasons for referral to a genetic clinic are facial dysmorphic features, developmental delay, and heart defects.

Patients with such suspicion are referred to a genetic clinic.

The patient is cared for by the GP.

Patients should also receive cardiological, nephrological or other specialist care.

In addition, depending on age, disorders characteristic of individual age groups should be taken into account.

There is no way to cure the Williams team.

The treatment is symptomatic, it consists in the appropriate treatment of the identified disorders (correction of heart defects), early detectionother abnormalities and monitoring the patient's condition according to the adopted rules.

The physical development of a child with this syndrome requires systematic evaluation. Dental care is necessary. Comprehensive, multi-specialist care and proper rehabilitation are of great importance.

Category:

Genetic diseases