Russell-Silver syndrome It is a very rare congenital condition. That is, it is a disorder that includes a set of symptoms and signs that are present from birth.
These children are characterized by growth retardation, both prenatally and postpartum. In addition, they usually have body asymmetries that can affect the extremities and face.
The anomalies that usually appear in this syndrome can significantly compromise the patient’s life. Therefore, in this article we explain everything you need to know about Russel-Silver syndrome and how it can be treated.
What is Russell-Silver Syndrome?
Russell-Silver syndrome is a rare disease. As explained by A article published in Orphannetmore than 500 cases have been described. However, a new one has not been released for a long time.
It is defined as a polymalformative disorder. This means that it produces malformations in different parts of the body. However, it has variable clinical expressivity. There are mild cases, where there are almost no alterations, and other very serious ones where life is compromised.
What happens is, during the embryonic period, there is a delay in growth. These children often have character traits. For example, asymmetry in the extremities or disproportion between the size of the head and the body.
The disease has no treatment as such. One can only try to reduce the impact that the malformations have on the person’s functionality. That’s why it’s essential to know how to detect it in advance.
Causes of Russell-Silver Syndrome
The fact that Russell-Silver syndrome is congenital suggests that it is an inherited disease. However, as explained by a study published in the Spanish Journal of Pediatric Endocrinologyin most cases there is no family history of the disease.
Russell-Silver syndrome has been observed to be inherited only in sporadic cases. It seems that the cause is genetic. The genes involved are related to growth control.
A article by National Center for the Advancement of Translational Sciences explain what almost 60% of cases are linked to abnormalities on chromosomes 7 and 11. In cases involving chromosome 7, these are usually maternal dysomies. This phenomenon consists in the fact that the child inherits two copies of chromosome 7 from the mother. It is normal to inherit one from each parent.
On the other hand, what happens with chromosome 11 are genetic imprinting abnormalities. Gene imprinting is a physiological process that regulates gene expression. When it is altered, it is possible that the DNA is unable to express itself.
However, it is important to note that in most people with Russell-Silver syndrome the genetic defect cannot be found that causes it Other different chromosomes with alterations are also detected.
What symptoms does it produce?
Russell-Silver syndrome has a highly variable clinical expression. This means that, in some cases, it is evident from birth. However, in others it is difficult to secure the diagnosis.
What usually defines this disease is growth retardation during pregnancy. They can also be very young at birth or grow very little after giving birth.
Asymmetry is another of the characteristic signs. It can affect the face, torso or extremities. For example, as expressed by a study published in Anales de Pediatricathere may be craniofacial disproportion.
In some children, a triangular shaped face, with a prominent forehead and thin lips, may be observed. The corners of the lips may be tilted down, in a sad gesture. There are children who have one part of their arm that is shorter than normal. Likewise, the little fingers can be more curved.
Most have normal intelligence. But it has been seen that some have motor delay, speech or cognitive abilities. Russell-Silver syndrome has also been associated with hypoglycemia, diarrhea, and gastroesophageal reflux disease (GERD).
With age, there are symptoms that usually improve, especially if good treatment is established. For example, weight and height can be increased. Language and cognitive skills benefit from personalized therapies.
How is it diagnosed?
The diagnosis of Russell-Silver syndrome is very complex. Especially in mild cases or those that aren’t so obvious from birth.
There are patients who first go to the nutritionist or endocrinologist. This is because, sometimes, the most notable alterations are related to growth. Is this possible, Once other causes have been ruled out, a geneticist should be consulted.
However, in many cases the exact cause cannot be identified. This is why it is essential to orient yourself on the basis of the malformations or signs that appear, as well as the history of pregnancy and childbirth.
During development, several tests can be performed to see if there are any alterations. Growth rate and limb measurement are usually the most helpful.
It is important to note that Russell-Silver syndrome can be confused with other diseases. The differential diagnosis should be made, for example, with hematological diseases such as Fanconi anemia.
Second explain inside St. Judes Children’s Research HospitalFanconi anemia is an inherited disease that affects the bone marrow. It stops the tissue from making blood cells or makes the ones it makes defective.
Treatments for Russell-Silver syndrome
Treatments for Russell-Silver syndrome are aimed at correcting malformations or improving growth. It is essential that these patients follow a strict nutritional program, with proper nutrition.
In some cases it is recommended to administer growth hormone. It helps stimulate the development of these children so that they reach a normal height. However, some may require surgical procedures.
Especially to try to correct the asymmetry of the extremities. When the legs are of unequal lengths, damage to the bones and muscles ends up, both in the knees and hips and spine.
It is recommended that people with Russell-Silver syndrome receive therapy. The idea is to promote appropriate language and way of speaking. Physical therapy can also be used to treat some physical abnormalities.
Russell-Silver syndrome is a rare entity
The truth is that this disease is very rare. To this day, many of its characteristics are still unknown, such as what causes it or how to diagnose it early. However, The most typical alterations, such as growth retardation and body asymmetry, have been described.
Russell-Silver syndrome can seriously affect the life of the sufferer. That is why it is important that both the child and the family have medical and psychological support in order to deal with the disease.
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