Genetic diseases

Williams Syndrome

Williams Syndrome

Williams Syndrome Photos Williams Syndrome - a rare congenital genetic disease, which manifests itself in violation of intellectual development and characteristic of the disease appearance.It is due to a specific appearance, the syndrome is also known as syndrome of "elf face" (the blunt end of a flat nose, big mouth, swollen eyelids drooping, broad forehead, a kind of the eyes).

causes of Williams syndrome has not been fully established.It is believed that with this syndrome exists genetic predisposition, which manifests itself in the adverse effects of various environmental factors.The hereditary nature of this disease is confirmed the same symptoms in identical twins.Chromosome set of children with Williams syndrome in most cases is normal.

most characteristic feature of Williams syndrome - a rather unusual structure of the face, which manifests itself by the following features: special shape of the eyes, very broad forehead, the color of the iris eyes bright - blue (eyeballs might have the sam

e shade), big mouth, big enough mouthfleshy full cheeks, swollen eyelids, a little bit pointy chin.All these symptoms are not always present in full, however, the presence of even two of them you can put a clear diagnosis - Williams syndrome.

Children with this syndrome is observed not only mental retardation, but also quite serious physical ailments - or flat feet, clubfoot, heart disease (aortic stenosis), a variety of support - movement disorders, increased flexibility of joints.Quite often these children observed malformation occlusion (teeth in children are cut very late);irregularly shaped teeth, rare, often affected by caries.During the first two years of life, children are very relaxed: they do not eat constantly thirsty, suffering frequent vomiting and constipation, which are replaced by diarrhea.Over the years, the distinctive symptoms appearance joins too narrow chest, long neck, low waist fit.These children in the first years of life are far behind in growth and weight, and on the other hand, growing up, starting to gain weight.Often, external symptoms combined with a variety of metabolic disorders (observed increase in cholesterol and calcium in the blood).

Patients with this syndrome have problems with math, writing, reading (their IQ 60).However, despite this, they have a fairly well-developed oral language, and it is very expressive, emotional and sometimes even poetic.In addition, these people have great musical talent.To focus on the many things they can not, however, play an instrument, sing or listen to music, can with enviable persistence.The vast majority do not know how to read music, while having virtually perfect pitch, a beautiful musical memory and an extraordinary sense of rhythm.People with this syndrome to have increased friendliness, but it may suffer increased anxiety.

The life expectancy of patients with Williams syndrome is somewhat smaller than that of ordinary people, which many experts attributed to increased levels of calcium in the blood, thus fairly soon develop calcification of the heart muscle and arteries.In 75% of patients with heart occurs directly above the tapered portion of the aorta, which in some cases requires mandatory surgery.In connection with a sufficiently large risk of cardio - vascular diseases, such patients are recommended yearly checkups.

Despite the fact that with age, the child with Williams syndrome are increasingly lags behind its peers, its flexible nature, the ability to listen and the natural sociability give a favorable prognosis for a possible improvement in the psyche.In teaching this special child, an adult must be considered excessive risibility directly in the action and elevated - a silly mood.All sessions must be held in a calm atmosphere, and the room is necessary to remove all extraneous and distracting.Community children with Williams syndrome with their healthy peers plays a very important in their further favorable development.

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