Weaver syndrome is a rare genetic disease in which the child grows very fast throughout childhood, but has delays in intellectual development, as well as having characteristic facial features, such as a broad forehead and wide open eyes, for example.
In some cases, some children may also have deformities in the joints and spine, as well as weak muscles and sagging skin.
- There is no cure for Weaver syndrome.
- However.
- Follow-up by the pediatrician and treatment adapted to symptoms can help improve the quality of life of the child and parents.
One of the main features of Weaver syndrome is that it develops faster than normal, so weight and height are almost always found in very high percentiles.
However, other symptoms and features include
Some of these symptoms can be identified shortly after birth, while others are identified during the first few months of life during pediatrician visits for example, so there are cases where the syndrome is not identified until a few months after birth.
In addition, the type and intensity of symptoms may vary depending on the degree of the syndrome and therefore, in some cases, may go unnoticed.
A specific cause of the onset of Weaver syndrome is not yet known, however, this may occur due to a mutation in the EZH2 gene, responsible for making certain copies of DNA.
Therefore, diagnosis of the syndrome can often be done through a genetic test, in addition to observing the characteristics.
It is always suspected that this disease can be transmitted from mother to child, so genetic counseling is recommended if there is any case of syndrome in the family.
There is no specific treatment for Weaver syndrome, however, several techniques can be used depending on the symptoms and characteristics of each child. One of the most commonly used types of treatment is physical therapy to correct foot deformities, for example.
Children with this syndrome also appear to be at increased risk of developing cancer, particularly neuroblastoma, so it is advisable to visit the pediatrician regularly to assess whether there are symptoms, such as loss of appetite or bloating, that may indicate the presence of the tumor. start treatment as soon as possible. Learn more about neuroblastoma.