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They are known as rare diseases because they affect a small sector of society. A disease is considered rare when it affects less than 5 people in every 10,000 inhabitants. We cannot look the other way and we do have to talk about them and get to know them. In this article we delve into Williams syndrome, its symptoms, its treatment, and its diagnosis.
He Williams syndrome is a congenital disorder (that is, one is born with it) that occurs by alteration at the level of chromosome 7 and, although it is extremely rare (the incidence at birth of the typical forms is 1 / 20,000, although there are partial forms whose incidence is unknown), it can be presented by both men and women. People born with this condition have a series of particular characteristics that allows it to be easily identified:
- When they are born they are babies who have low birth weight and the progression of weight and height is extremely slow.
- You have determined facial features like short nose, wide forehead, small jaw, abundant skin around the eyes, thick lips, alterations in the teeth.
- Its intellectual capacity is limited and they have a delay in the acquisition of skills such as walking, speaking, toilet training ...
- Alterations in language or motor part (for example ability to make a movement) but they develop spectacular skills in music, in addition they are very loving and extremely sociable people.
- At the level of the eyes and ears they are also affected. They are bothered by the very loud noise and, in general, they have some ocular defect that makes them need corrective lenses such as myopia or strabismus. According to the portal on rare diseases in its encyclopedia on 'Rare Diseases' the report 40% of affected children have strabismus and / or refractive problems.
- Suffer from heart malformations or high blood pressure, which makes this disease serious.
- Some people can even have precocious puberty and bowel or urine problems.
- Many suffer from joint and muscle problems.
- They are people who have umbilical hernias in a higher proportion than the rest of the general population.
It is important to clarify that not all people with Williams syndrome have the same symptoms as described above, as well as some will have more pronounced symptoms than others.
To diagnose it, the evaluation by a geneticist, who, according to the physical features mentioned above, will suspect this syndrome and will be the one who will indicate specific DNA tests, such as the Karyotype, where the presence of abnormality in chromosome 7, which is affected in this pathology, will be determined.
There is no treatment as such for this syndrome. The treatment depends on the symptoms of the person, but in some it is necessary heart surgery, specialized education programs with curricular adaptation due to the learning problems that can be seen.
They are people who need a multidisciplinary team that includes a pediatrician, speech therapist, physiatrist, psychological support, cardiologist and orthopedist to be able to treat everything that this syndrome entails. Some can get to lead their normal life, live and be independent without the need for help from family members.
Unfortunately, most of the people who suffer from it need the help of relatives, since it is difficult for them to fend for themselves. The success that a person does not develop complications and can have quality of life depends a lot on early diagnosis in order to be able to address all the aspects that this syndrome encompasses early. When the diagnosis is made late, the person fails to develop the same and the chances of health complications are greater.
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You can read more articles similar to Williams syndrome in children. Symptoms, treatment and diagnosis, in the category of Children's Diseases on site.