Childhood illnesses

Williams syndrome in children. Symptoms, treatment and diagnosis

Williams syndrome in children. Symptoms, treatment and diagnosis

We are searching data for your request:

Forums and discussions:
Manuals and reference books:
Data from registers:
Wait the end of the search in all databases.
Upon completion, a link will appear to access the found materials.

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.

Did you know that there are more than 7,000 rare diseases in the world? In this last paragraph we want to talk to you about those that most affect and develop in the child population.

The painful butterfly skin disease in infants and children. Have you heard of epidermolysis bullosa? This name may not sound familiar to you, but butterfly skin does. It is a rare disease of the skin of babies and children that requires special care since their skin is very sensitive to any type of abrasion or injury.

What is Tourette Syndrome in children. How Tourette Syndrome Affects Children. What is Tourette Syndrome. It is part of the spectrum of tic disorders and is characterized by motor and vocal tics. There is no cure for Tourette, but thanks to medical research there are several treatment options.

The request of a mother with a girl suffering from Rett syndrome. Research, resources and, above all, more understanding and empathy. That is what Laura Blázquez, mother of a daughter who suffers from Rett syndrome, is asking for, a disease classified as rare due to its low prevalence in society. A heartbreaking and very emotional testimony.

Acute flaccid myelitis in children, a rare disease similar to polio. Acute flaccid myelitis is a rare but serious condition. That can scare many parents, but it must also be said that the probability of acquiring it is less than 1 in a million. The best thing is to know what it is, what causes it and, above all, how to prevent it.

What is Kabuki mask syndrome in children. Kabuki mask syndrome is a rare disease that affects, today, 400 people around the world. Its most significant clinical manifestations are intellectual disability, neuromuscular disorders or congenital heart disease, something that conditions life expectancy.

Sanfilippo Syndrome in children. Causes and consequences of Sanfilippo disease. What is and what are the symptoms of Sanfilippo disease in children. It is a rare, hereditary disease that is caused by a genetic failure that affects the functioning of the enzymes responsible for breaking down substances that the body does not need.

The rare disease of werewolf syndrome in children that scares parents. You have probably heard lately about a strange disease known as crazy man syndrome or hypertrichosis, which is manifested by excess hair on the child's body. Do you want to know what it is, its causes and what treatments are the most recommended?

You can read more articles similar to Williams syndrome in children. Symptoms, treatment and diagnosis, in the category of Children's Diseases on site.

Video: Episode 2 - Living With Sjögrens (February 2023).