Russell-Silver syndrome is a very rare congenital condition. That is, it is a disorder that comprises a set of symptoms and signs present from birth.
These children are characterized by growth restriction, both in the prenatal period and after delivery. In addition, they usually present body asymmetry that can affect the extremities and the face.
The abnormalities that usually appear in this syndrome can significantly compromise the life of those who suffer from it. 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. According to an article published in Orphanet, more than 500 cases have been described. However, no new ones have been published 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 a variable clinical expressiveness. There are mild cases, in which there are hardly any alterations, and other very serious cases in which life is compromised.
What happens is that, during the embryonic period, there is a growth delay. These children often have distinctive features. For example, asymmetry in the extremities or disproportion between the size of the head and the body.
The disease has no treatment as such. You can only try to reduce the impact that malformations have on the functionality of the person. That is why it is essential to know how to detect it early.
Causes of Russel-Silver syndrome
The fact that Russell-Silver syndrome is congenital makes one tend to think that it is a hereditary disease. However, as explained in a study published by the Genetic and Rare Diseases Information Center, in most cases no family history of the disease is found.
Russell-Silver syndrome has only been seen to be inherited in sporadic cases. It seems that the cause is genetic. The genes involved are related to growth control.
An article by the U.S. National Library of Medicine explains that almost 60% of cases are linked to abnormalities in chromosome 7 and 11. In cases related to chromosome 7, they are usually maternal disomias. This phenomenon consists of the child inheriting two copies of chromosome 7 from the mother. The normal thing is to inherit one from each parent.
On the other hand, what happens with chromosome 11 are genetic imprinting abnormalities. Genetic imprinting is a physiological process that regulates the expression of genes. When it is altered it is possible that DNA fails in its expression.
However, it is important to note that in most people with Russell-Silver syndrome the genetic defect that causes it cannot be found. Even different chromosomes with alterations are 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 complex to ensure the diagnosis.
What usually defines this disease is a growth restriction during pregnancy. They may also be very young at birth or grow up very soon after delivery.
Asymmetry is another of the characteristic signs. It can affect the face, torso or extremities. For example, as expressed in a study published by the Spanish Association of Pediatrics, it is possible that there is craniofacial disproportion.
In some children, a triangular-shaped face with a prominent forehead and thin lips can be seen. The corners of the mouth may be tilted downward, in a sad gesture. There are children who have a part of the arm that is shorter than normal. Similarly, the little fingers may be more curved.
Most have normal intelligence. But it has been seen that some have motor, speech or cognitive deficit. 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 a good treatment is established. For example, weight and height can be raised. Speech and cognitive skills benefit from individualized therapies.
How is it diagnosed?
The diagnosis of Russell-Silver syndrome is very complex. Especially in mild cases or in those that are not so evident from birth.
There are patients who go first to the nutritionist or the endocrinologist. This is because, sometimes, the most notable alterations are in relation to growth. It is possible that, once other causes have been ruled out, it is necessary to go to the geneticist.
However, in many cases the exact cause cannot be identified. That is why it is essential to orient yourself based on the malformations or signs that appear, in addition to the history of pregnancy and birth.
During development, different tests can be carried out to check if there is any alteration. Growth rate and limb measurement are often the most helpful.
Importantly, Russell-Silver syndrome can be confused with other diseases. Differential diagnosis should be performed, for example, with hematologic diseases such as Fanconi anemia.
As explained by the National Heart, Lung, and Blood Institute, Fanconi anemia is an inherited disorder that affects the bone marrow. It prevents the tissue from forming blood cells or renders those it synthesizes defective.
Treatments available for Russell-Silver syndrome
The treatments for Russell-Silver syndrome are designed to correct malformations or improve growth. It is essential that these patients follow a strict nutrition program, with adequate nutrition.
In some cases, it is recommended to administer growth hormone. It helps to 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 different lengths, damage occurs at the bone and muscle level, both in the knees, the hips and the spine.
It is recommended that people with Russell-Silver syndrome receive therapy. The idea is to promote an appropriate language and manner of speaking. Physical therapy may also be used to treat certain physical abnormalities.
Russell-Silver syndrome is a rare entity
The truth is that this disease is very rare. To this day, many of its features are still unknown, such as what is its cause or how to diagnose it early. However, the most typical alterations, such as growth restriction and body asymmetry, have been described.
Russell-Silver syndrome can seriously affect the life of those who suffer from it. That is why it is important that both the child and the family have medical and psychological support to cope with the disease.