The Ellis Van Creveld Syndrome

The Ellis Van Creveld syndrome is a genetic disorder. And being such, it can be inherited from both parents. But before it is passed on to the baby, both parents had to have the defect. That alone would show that the disease is not really common.

The Ellis Van Creveld syndrome is mainly due to an error in the gene’s chromosome 4. This is a rare condition, and it generally only happens in every sixty thousand babies born. It is a condition wherein a newborn baby is observed to have only one chamber in their heart, instead of the usual left and right collecting chambers. Along with this heart condition, other physical signs of the disease include being deprived of height.

Patients suffering from the Ellis Van Creveld syndrome grows anywhere between 3 feet to 5 feet only. They never grow taller than 5 feet 1 inch tall. And because they are rather short, their limb and trunk are short as well, and so are their ribs and lungs. And this is another factor why the development of congenital heart disorder is very probable.

Those with Ellis Van Creveld syndrome may have an extra or sixth finger on their pinkies. People who have it may also have absent nails and their teeth are shaped oddly as well. In essence, all these physical deformities are also the defined symptoms of this disease.

Diagnosing this disease has to be performed while the baby is still in the mother’s womb. A detailed ultrasound should be able to detect it. Other tests maybe also be performed, but most of them can be risky for the newborn baby.

Most of the time though, this disease is checked only if the family has a known history of the disease. And because it has to be diagnosed before the baby is born, a big decision has to be made. Should the pregnancy be continued or not?

For babies born with the disease, the ultimate treatment is surgery. The heart defect, as well as the patient’s bone malformations, can be repaired with a special clinical operation. The most common heart defect developed by people with Ellis Van Creveld syndrome is called atrial septal defect. And as stated earlier, is a condition wherein the heart only has one chamber functioning, instead of two.

This disease won’t usually bother the baby until after a few years in their life. And unless the baby’s ribs and lungs are really short, it should not be apparent right after their birth. The only good thing about this disease is that it is highly fixable. But once the affect heart or body part is treated, it does not recur anymore. And that means the patient will be able to live a normal life thereafter.

But the surgery that has to be performed is an open-heart surgery. This is a very delicate operation in itself. And it offers no guarantees at all, although the chances of full recovery are high nowadays because of the advancement of science. It is very important that the child’s parents are physically and psychologically prepared as to what the surgery may bring.

But for children who are not fortunate enough and suffer from the disease right at birth, the condition can be fatal. And these children are usually the ones who have extra small chests. And so they are likely to develop respiratory infections and pneumonia. And because these children are still in their infancy, they would have a hard time battling with the sickness that engulfs them. Studies had shown that 50% of these children die of the disease.

While this condition is fatal, it is highly curable. The baby may not know what he is going though, but you, as their parents surely do. It is then very important that you do everything that is required to guide your baby towards full recovery.