Does your baby have small dimples on his lower lip? Or does he have a cleft lip or palate? Sometimes you can even see a missing tooth? It is very normal for you, as a mother or father, to feel very scared and worried when you see these things. But don't worry. Today we will talk in detail about what causes these things and what can be done about them. Once you are aware of this, you will feel a great sense of relief.
What is Van der Woude Syndrome?
Simply put, Van der Woude Syndrome is a rare, inherited condition that affects the way a baby's mouth develops while they are still in the womb. Children with this condition have small pits (lip pits) on their lower lips. Sometimes these pits may be slightly raised. They may also have a cleft lip, a cleft palate, or both. Some children may also have some teeth that have not yet developed.
Doctors sometimes call this condition "lip pit syndrome." It was first described by French physician J. Demarquay around 1845. However, it was given the name "Vander Woude" in honor of Dr. Anne Van der Woude, who studied it extensively in the early 1950s.
What is Cleft Lip and Cleft Palate?
Let's get this straight. Cleft lip and cleft palate are birth defects that occur during the development of a baby in the womb. A baby can have either or both of these conditions.
- Cleft Lip: This is when the two sides of your child's upper lip don't come together properly. This can cause a small gap or crack in the upper lip. This can also affect the gums.
- Cleft Palate: This is when a child has a gap or split in the roof of their mouth, either in the front part of the palate, which is the bony part, or in the back part of the palate, which is the soft tissue part, or in both parts.
How common is Van der Woude Syndrome?
This is actually a very rare condition. If you look around the world, this condition only affects about one in 35,000 to 100,000 people. So you can see how rare this is.
What is the reason for this?
Now let's see what causes Vander Wood Syndrome. The main reason for this is a genetic change.
Everything in our body is controlled by a series of small instructions. This is what we call `genes`. It's like a recipe. So, a special gene called `IRF6` (Interferon Regulatory Factor 6) is involved in Vander Wood syndrome. This `IRF6` gene works like an `engineer` who builds things like a baby's head, face, skin, and genitals. It is he who makes the `protein` ingredients that these things need to grow properly.
Now imagine, what happens if there is a slight change, or we can say a 'mutation', in the instructions that this 'engineer' works with, in the `IRF6` gene? That `protein' ingredient is not produced in the required amount. That is when some parts of the baby's face, especially the lips and palate, do not develop properly. Do you understand?
Children with this condition inherit the altered `IRF6` gene from only one parent, either the mother or the father. As scientists continue to research this, it is possible that more genes involved may be discovered in the future.
Who is at higher risk of developing this?
Vander Wood syndrome is an autosomal dominant disorder . Simply put, this means that if either parent has the gene mutation that causes the disease, the child can inherit it.
This means that if either parent has the gene mutation, each child they have has a 50% chance of inheriting the condition. Usually, the parent who inherits the gene also has the condition. However, very rarely, a child can inherit the gene mutation and not show symptoms of Vander Wood syndrome.
What are the symptoms of this condition?
There are several main symptoms of Vander Wood Syndrome, which we should be aware of.
- Cleft lip, cleft palate, or both: This is the most prominent and obvious feature.
- Lip pits or mounds: Small depressions or mounds may appear on one or both sides of the lower lip. Sometimes there may be one or more of these.
- Moist lower lip: Because these `lip pits` are connected to either salivary glands or mucus glands, the lower lip may always appear moist and wet.
- Missing teeth (hypodontia) or problems with tooth enamel (dental hypoplasia): Some children may be missing one or more permanent teeth. They may also have some problems with the development of enamel, the protective outer covering of the teeth.
What complications can occur due to this condition?
Some children with Vander Wood syndrome may also have other difficulties, but not everyone has these.
- Developmental delays: Some children may experience some delay in their overall development.
- Mild cognitive impairment: There may be some mild impairment in learning abilities.
- Speech and language delays: Problems with the lips and palate can cause delays in speech and language development.
Can you recognize this while the baby is in the womb?
Yes, sometimes it is possible.
An ultrasound scan while the baby is still in the womb can sometimes detect a cleft lip and, rarely, a cleft palate. There are also special tests to check for the IRF6 gene mutation. These are called prenatal tests.
- Chorionic villus sampling (CVS): This involves taking a small sample of tissue from the placenta and testing it.
- Genetic amniocentesis: This involves taking a sample of the amniotic fluid surrounding the baby and testing its genes.
These tests can confirm whether the genetic mutation is present.
How exactly is this determined after the baby is born?
If your baby has a cleft lip, cleft palate, or lip pits after birth, your doctor will likely recommend a gene test . This is usually done by taking a blood sample. This test will determine for sure whether you have the IRF6 gene mutation that causes Vander Wood syndrome. Sometimes you and your partner may be asked to have this genetic test to understand your family's genetic history.
How to treat this?
The main treatment for this condition is surgery . Don't worry, this surgery is now very advanced.
- Surgery is needed to close the gaps between a cleft lip and a cleft palate, that is, to repair them.
- Cleft lip surgery is usually performed when the baby is between 2 and 6 months old.
- The surgery to repair the cleft palate is usually performed later, that is, when the baby is between 9 and 18 months old .
- If you have those `lip pits` that we talked about, surgery is done to remove them and stop saliva and mucus from flowing into the lips. This surgery can sometimes be done at the same time as the surgery to repair the `cleft lip` or `cleft palate`.
What other treatments are there?
In addition to surgery, there are other treatments that can help the child.
- Feeding difficulties: Babies with a cleft lip or cleft palate may have difficulty sucking and eating until surgery. If this happens, you may need to see a dietitian or speech-language therapist for advice on special feeding bottles and feeding techniques.
- Speech therapy: Some children may still have difficulty speaking after surgery. Speech therapy can be a great help in such cases.
- Dental treatment: Whether you have missing teeth or problems with your tooth enamel, it is important to have regular dental checkups with a specialist dentist and take good care of your teeth and gums. You may also need to have dentures or orthodontic treatment.
Can Van der Woude Syndrome be prevented?
This is a genetic condition, so it is difficult to completely prevent it. However, if you know that you or your partner have the gene mutation that causes it, it is a good idea to see a genetic counselor before you have a child.
A genetic counselor can explain to you the risk of passing this genetic mutation on to future generations, and what methods can be used to reduce that risk (for example, things like `PGD` - `Preimplantation Genetic Diagnosis`, which is done with technologies like `IVF`).
What is the future of someone with this condition?
This may sound scary, but in most cases, this condition can be treated successfully. Surgery to correct cleft lip and cleft lip is very successful. There are many things you can do at home to help your child recover quickly after surgery.
Most children do well after surgery and live normal, full lives like other children. If they have difficulty speaking, speech therapy can help. So it's important to have hope.
When should you see a doctor?
If your child has any of the following problems, see a doctor immediately:
- Difficulty breathing
- Difficulty eating
- Difficulty speaking
- Difficulty swallowing
If you have these things, it is very important to seek medical advice immediately.
What should you ask your doctor?
When you go to see the doctor, you can ask these questions:
- What causes my child to develop Vander Wood syndrome?
- Does my child need surgery? If so, when will it be done?
- What other treatments are available that can help my child?
- What can I do at home to help with eating and speaking problems?
- Should my husband and I get genetic testing?
- Should I be aware of symptoms of complications?
Ask these questions and clear up everything that's on your mind.
What is the difference between Van der Woude Syndrome and Popliteal Pterygium Syndrome?
This is also a bit complicated, but it's good to know in brief.
Popliteal Pterygium Syndrome (PPS) is also an autosomal dominant condition. Like Vander Wood Syndrome, it is caused by a mutation in the same gene, IRF6. However, PPS is rarer than Vander Wood Syndrome (affecting only one in 300,000 people worldwide).
In addition to the symptoms of Vander Wood syndrome, such as cleft lip, cleft palate, and lip pits, a child with `PPS` may have several other symptoms:
- There may be excess tissue attached between the upper and lower eyelids, or between the jaws.
- There may be folds of skin over the big toes.
- The labia majora, the outer part of the vagina in girls, do not develop properly.
- The testicles of boys have not descended.
- There may be webs of skin behind the knees or between the fingers or toes (also called syndactyly).
Finally, what to remember (Take-Home Message)
It's normal to feel sad, worried, and even angry when you find out that your child has an unusual facial feature, such as `lip pits`, `cleft lip`, or `cleft palate`. As a parent, there's nothing wrong with feeling that way.
But the important thing is that many of these conditions can be successfully treated. Surgery can correct many of these physical changes, helping your child grow well, play with others, learn, and lead a normal life.
If your child has difficulty eating or speaking, you can seek specialist help. If there are any dental problems, it is essential to seek regular dental advice.
If your child has Vander Wood syndrome, it's important to see a genetic counselor to talk about how the genetic mutation that caused it could affect future generations and what your options are. You are not alone, and there are many doctors, therapists, and counselors who can help you on this journey.
` Van der Woude Syndrome, lip pits, cleft lip, cleft palate, IRF6 gene, genetic mutations, birth defects, surgery, children's health, genetic counseling
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