What is Fraser Syndrome? Let's talk about this rare condition

A newborn baby brings immense joy to a family. But at the same time, it is normal for you, as a mother or father, to have a few fears and doubts. Sometimes, a child is born with a very rare condition that we have never heard of. It is difficult to put into words what we feel at such a time. Today we are going to talk about one such rare, genetic condition, Fraser Syndrome.

First, let's see, what is this genetic disease?

Simply put, everything in our body is controlled by our genes. Things like our hair color, eye color, and height are determined by these genes. Sometimes, certain changes, or mutations, can occur in these genes. That's when genetic disorders occur. Some of these can be seen at birth, while others may appear later.

Fraser syndrome is a similar, very rare genetic condition. It occurs early in a child's development in the womb. It affects a very small number of people in the world. It can occur in both males and females.

What are the symptoms of a child with Fraser Syndrome?

The symptoms of this condition can vary from child to child. This means that not every child will show the same symptoms. However, there are several main and other symptoms that are commonly seen.

The table below shows some of the most common symptoms seen in this condition.

In addition to these symptoms, there may be other less common symptoms. If you notice anything unusual or different in your child's body, talk to your doctor immediately .

Why does this situation occur?

As we've discussed before, this is a condition caused by a genetic defect. Specifically, changes in the genes FRAS1, FREM2, and GRIP1 are the main causes.

We call this pattern of transmission through genes 'Autosomal Recessive' . Now let's see how to understand this simply.

Imagine that both your mother and father have one copy of this defective gene in their bodies. But they don't have the disease, because they only have one copy of the defective gene. We call them 'carriers'.

Now, when these carrier parents have a child,

• There is a 25% (one in four) chance that a child will have this condition (if both parents inherit the defective gene copies).
• There is a 50% (one in two) chance that the child will be an asymptomatic carrier, just like the parents.
• There is a 25% chance that the child will not inherit this defective gene at all and will be completely healthy.

This is like flipping a coin. This risk is the same in every pregnancy.

How to diagnose this condition?

This condition is usually diagnosed before the baby is born, that is, during pregnancy. Doctors suspect this if any abnormalities are seen in the baby's kidneys, lungs, or fingers during an ultrasound scan performed between 18 and 20 weeks. Doctors pay special attention to this, especially if someone in the family has had this condition before.

Sometimes, if the scan cannot be detected, the condition is diagnosed based on physical characteristics present at birth. Genetic testing can also be performed to confirm the diagnosis.

What about the treatment and the child's future?

There is no cure for Fraser syndrome yet. But that doesn't mean there's nothing you can do. The main goal of treatment is to manage the child's symptoms and give them the best possible quality of life.

• Surgery: Some physical abnormalities (e.g., clubbed fingers, squinting eyes) can be corrected to some extent by surgery.
• Supportive Care: This is the most important. The child needs the services of a medical team consisting of various specialists. For example, a pediatrician, a nephrologist, and an eye surgeon work together to develop a treatment plan for the child.

The child's life expectancy depends on the severity of the symptoms. In cases of severe respiratory or kidney problems , some children are at a tragic risk of dying in the first year of life. However, most children without severe complications can live a normal life .

Genetic counseling is very important in situations like this. It can help you understand the condition, the risks to other family members, and future pregnancies. Ask your doctor about this.

Fraser Syndrome, Genetic Diseases, Birth Defects, Cryptophthalmos, Syndactyly, Pediatrics, Rare Diseases, Genetic Counseling