Are your little one's fontanelles late to fill in? Or do their collarbones feel out of place? Are their teeth coming in late? It's normal for parents to feel a little scared when they see these things. Today we're going to talk about Cleidocranial Dysplasia, a rare genetic condition that can cause these symptoms.
What is Cleidocranial Dysplasia?
Simply put, Cleidocranial Dysplasia is a genetic condition that affects the development of our body's skeletal system, especially the skull, bones, and teeth. What happens is that these parts do not grow and develop normally.
People with this condition may have some distinctive physical characteristics . For example:
- The collarbones (clavicles) may not have developed properly or may not be present at all. This can cause some children to bring their shoulders together in front of their chest.
- Short stature.
- Some special facial features (e.g., broad forehead, small jaw).
- Delays in tooth development (e.g., delayed eruption of baby teeth, delayed eruption of permanent teeth, extra teeth, and tooth loss).
But remember this, this condition has no effect on the child's intelligence or mental development.
Who is most affected by this condition? How common is it?
Cleidocranial Dysplasia is a genetic disorder that can be inherited from both parents. This is called an autosomal dominant pattern of inheritance. For example, if either parent has the genetic disorder, there is a 50% chance that their child will also have the condition.
Also, sometimes a child can develop this condition randomly, that is, `de novo`, even if no one in the family has had this condition before.
This is a very rare condition . Worldwide, only one in a million babies are born with this condition.
What are the symptoms of Cleidocranial Dysplasia?
Not everyone with this condition experiences the same symptoms. Some people have fewer symptoms, some have more. Also, the severity of symptoms can vary from person to person.
The main symptoms that are often seen are:
- Delayed closure of the soft spots (fontanelles) and sutures. The soft spots on the top of a baby's head are like a hollow, and they take a long time to fill.
- The collarbones (clavicles) are not developed properly or are missing. This can cause some children to bring their shoulders forward and put them together.
- Dental problems:
- Delayed eruption of permanent teeth.
- The fact that baby teeth don't fall out.
- Extra teeth.
- Dental crowding.
- Teeth that are crowded and do not fit together properly (malocclusion).
In addition to this, other symptoms that may affect the child's physical development may include:
- Breathing difficulties: especially suffocation during sleep (obstructive sleep apnea).
- Scoliosis.
- Abnormal growth of the bones in the hands .
- Decreased height or delayed growth.
- Delayed motor skills: This means that things like crawling, walking, and climbing are delayed.
- Frequent sinus infections and ear infections. If ear infections persist, hearing loss can also occur.
- Decreased bone density (osteopenia or osteoporosis).
The important thing is that even if the parents have this condition, their symptoms may be different from the child's symptoms.
What is the reason for this? Let's understand the genetic side a little bit.
The main cause of Cleidocranial Dysplasia is a mutation in the gene `RUNX2`. This, as mentioned earlier, can occur randomly (de novo) or can be inherited from parents.
Now let's see what these genes are. Imagine that our body is like a big book. This book has many chapters. Those chapters are called `chromosomes`. Each of our cells has 46 of these chromosomes, that is, 23 pairs. Inside these chromosomes is the complete set of instructions that build and control our body, that is, `DNA`. `Genes` are the tiny parts of that `DNA`, like the sentences in a book. Each chromosome has thousands of genes.
We get two copies of each gene - one from our mother and one from our father. Cleidocranial Dysplasia is an autosomal dominant condition, meaning that even if a child inherits the mutated gene from just one parent, it is enough for the child to develop the disease.
Important: If one parent has this `RUNX2` gene mutation, their child has a 50% chance of inheriting the condition.
How is Cleidocranial Dysplasia diagnosed?
This condition is usually diagnosed after the baby is born. Your doctor will examine your baby, look for symptoms, and order tests to confirm the diagnosis.
The main tests performed for this are:
- Dental X-rays.
- X-rays of the bones, especially the skull, collarbones (clavicles), and hands. These X-rays allow the doctor to see exactly what is wrong with the bones and develop a treatment plan that is right for your child.
- Genetic testing. This is the only way to confirm the diagnosis. This involves taking a sample of the child's blood and testing it in a laboratory to see if there are any changes in the child's DNA, chromosomes, or proteins. This genetic test can determine exactly which gene has the mutation.
How is it treated? Can it be completely cured?
There is no cure for Cleidocranial Dysplasia. However, there are various treatments available to help manage the symptoms and reduce the discomfort caused by the condition. The treatment plan is unique to each child, meaning that the treatment is determined based on the child's symptoms.
Treatment may include:
- Dental care: dental maintenance, orthodontic care, and dental surgery if necessary.
- Surgery for bone growth problems.
- Surgery for problems with the skull and facial bones (`Craniofacial surgery`).
- Wearing special helmets or supports until the skull bones are completely covered.
- Speech therapy.
- If you have frequent ear infections, ear tubes may be inserted.
- If you have hearing loss, wear hearing aids.
- Providing calcium and vitamin D supplements.
- If you have difficulty breathing during sleep (sleep apnea), surgery is recommended.
Is there a way to reduce the risk of this happening?
Cleidocranial Dysplasia is caused by a genetic mutation, so there is no way to prevent it. However, if you are expecting a child, it is important to be aware of genetic conditions, understand the risk of passing on a genetic condition to your child, and talk to your doctor about genetic counseling and, if necessary, genetic testing.
What happens if my child has Cleidocranial Dysplasia? What should I expect?
Children diagnosed with this condition can expect a good prognosis. Treatment can control symptoms. If the child has any serious symptoms after birth (e.g., major bone growth problems, difficulty breathing), doctors will treat them quickly, even performing surgery if necessary.
Long-term dental care is essential to ensure that teeth are properly aligned and aligned as they grow. Your medical team will develop a specific treatment plan tailored to your child's symptoms and help your child live a full, healthy life.
When should you see a doctor?
If you notice any symptoms of Cleidocranial Dysplasia that are interfering with your child's daily activities or well-being, see a doctor immediately. For example:
- If you have pain or discomfort in your mouth or teeth.
- If you have frequent sinus or ear infections.
- If you feel like you can't hear properly, or don't respond to even a simple command.
- If the child is late in reaching developmental milestones appropriate for their age (e.g. talking, walking).
- If you experience intermittent breathing stops during sleep at night, or if you feel extremely tired during the day.
IMPORTANT: If your child is having difficulty breathing, go to the nearest hospital emergency room immediately, or call 1990.
What questions should I ask the doctor?
When talking to the doctor about your child's condition, you can ask these questions:
- Will my child need dental surgery if their teeth don't come in properly?
- What should I do if my child is late in reaching developmental milestones?
- What is my risk of having a child with a genetic condition?
Is there anyone famous who has this condition?
Yes, you probably know Gaten Matarazzo, the actor who plays Dustin Henderson in the hit Netflix series Stranger Things. He has publicly revealed that he has Cleidocranial Dysplasia. According to Gaten, he is very lucky to have the condition because he has it, and he also says that he is very lucky that he has mild symptoms. He uses his celebrity to advocate for children with the condition, raise awareness about the disease, and help to break down the misconceptions about living with the genetic condition.
Finally, take-home message
Children born with a condition called Cleidocranial Dysplasia can live very good lives. Treatment can control symptoms and help the child live a happy, fulfilling life.
The most important thing is to see a dentist regularly and take care of your teeth. You will have to see the doctor a little more than other children, so that as those teeth grow in, they can be kept without any discomfort or pain.
If you are expecting a child, it is very important to receive genetic counseling to learn about the risk of passing on a genetic condition to your child.
I hope this information is helpful to you. If you have any further questions, please feel free to talk to your doctor.
` Cleidocranial dysplasia, genetic diseases, bone development, dental problems, RUNX2 gene, genetic testing, child health
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