Apert Syndrome and Syndactyly
Children with Apert syndrome typically experience syndactyly ''a condition in
which their fingers are webbed or conjoined. with Apert Syndrome, the severity of syndactyly means your child's fingers might not bend completely even after being separated, and their thumbs may be short and unable to bend well''.
Apert Syndrome is included in the category of rare diseases. That this special condition is very rare all over the world. Another name for this is acrocephalosyndactyly type 1
Acrocephalosyndactyly type 1
Also called It also resembles craniosynostosis syndrome. You can see the shape and hands of the affected child in the picture.
It is considered in the list of intellectual disabilities.
This condition is inherited in an autosomal dominant manner. It means that the parents will not have it, even if it is not in the family history, it can happen. Among the common characteristics of these children
- The eyes are bulging,
- Because the upper jaw is not formed properly, the teeth are stacked on top of each other.
- In many cases there is a similar lower jaw.
- The nose is round like a parrot's beak, it is called Beaked Nose. The color is usually white and red.
- The over-all face is flat, sitting low in the middle.
The skull may vary from the normal shape, usually having a cone shape. turribrachycephaly in medical parlance is called. The skull can be very large or very small or crooked, from high to low.
What is syndactyly?
There is another condition associated with Eppert syndrome that can occur without Eppert syndrome. This is called syndication. Eppert syndrome and syndactyly occur together in 99% of cases.
In it, two or three fingers of the hands and feet are connected by birth. Ninety percent of ring finger and ring finger are connected. Index finger and ring finger which is called Chichi in Punjabi are separate. And the thumb is also free. But in 5% cases all three fingers except the ring finger are attached. And in the remaining 5%, all four fingers are connected to form a big toe. And the thumb is separated. Why does this happen? Let's go ahead and see.
What percentage of the population has Eppert syndrome?
Various studies indicate that the birth rate of children with Eppert syndrome is one in every 65 thousand, that is, 3 in 200,000 children suffer from Eppert syndrome. If the same ratio is calculated in Pakistan, out of 22 crores, around 3,000 to 32,000 people may have Eppert syndrome. According to the National Organization for Rare Disorders (NORD) in the United States, one in every 165,000 to 200,000 children is born with Eppert syndrome. According to the National Library of Medicine, one in 65,000 to 88,000 children is born with Eppert syndrome.
What are the reasons?
Even without a family history, this syndrome can occur in a child. If one parent has Eppert syndrome, there is a 50 percent chance that the child will pass on Eppert syndrome. That is why their marriages are not supported.
It is a genetic condition. Like coding a software or mobile app right? Just like our being is a dirty drop of water. which unites with the ovum in the mother's womb. So God Himself does a systematic coding in the zygote formed by the union of sperm and ovum. What we know as DNA.
Half of the genetic information in DNA comes from the mother's genes and half from the father's genes. DNA is a coding system that stores all of our information from eternity to thousands of millions of years after our death. And jeans are another part of it. Genes act on the coding stored in DNA to make our shape, intellect, color, height, and size from that drop of water.
During the transformation from water to blood and then to a clot of flesh, the genes undergo many changes and mutations. DNA does not change it stays the same. Now in which gene mutation has occurred? She determines where the problem will be. If all the genes are perfect, we are born without any physical disorders.
In Eppert syndrome
Fibroblast growth factor receptors 2 (FGFR2)
A mutation or defect occurs in the named gene. Remember that genes make proteins and those proteins then make bone and skin cells. This FGFR2 gene functions to signal overall bone development. That is, this gene is responsible for making our bones. Now, due to a defect in this protein, the signals to our structures in the next stage of bone formation are delayed for longer than their normal duration. So this gene prematurely closes the bones of the skull.
And puts fibers on top. This process was supposed to occur at the age of a few years in the normal growth pattern. Which happened in the mother's womb. Now the skull begins to grow. So the bundles of muscles do not allow it to grow. According to the information of these muscles, the brain is complete while the air is not. And the skull begins to grow abnormally. Wherever he gets the opportunity, he grows. Rather, the skull of many children is damaged. The bones in the hands and feet are connected to each other. And the rest of the bones of the body can also be deformed to some extent.
A defect in the same gene FGFR2 can also lead to a few other related disorders such as
Pfeiffer syndrome
Crouzon syndrome
Jackson-Weiss syndrome
Eppert syndrome occurs equally in males and females.
How is the diagnosis made?
One thing to remember is that in the 20th week, the pregnant mother must have an ultrasound done by a mail radiologist with Color Doppler 2D or 3D. Gynecologists don't know much about ultrasound. As much as a radiologist. And the understanding of the mail case and the evaluation of such scans is slightly better in every case than per mail. This is my personal experience, you have the right to disagree. A structural scan in the sixth month of pregnancy can tell if the baby has Eppert syndrome or not. If there is any other specialty, the doctor will tell you. It would have been visible if the skull had not been properly formed. Or the baby is diagnosed with Eppert syndrome at birth. Postnatal CT scan can assess the severity of bone deformities.
How long can the average age be?
Children with Eppert syndrome usually live according to the rest of the local life span. The average age will be the same as that of his other siblings. However, if there is a heart problem, that is a different matter.
What problems does a child with Eppert syndrome have?
There are many problems that can last a lifetime. Parents or guardians should take heart that this child will be under the shadow of special attention and medical treatment for the rest of his life.
Partial or total loss of hearing
Having difficulty speaking
Having severe acne Acne that causes rashes and pimples on the whole body, face and neck
Sweating profusely
A fusion of the spinal bone in the neck which can cause stunting in height
Having oily skin
Eyelids and eyebrows very often reduced or absent
Severe delay in growth and development
Cleft palate
Getting daily ear infections.
Mild to moderate intellectual disabilities.
What is the treatment?
Each child's treatment is different. Surgery in the first two years of age can largely repair the muscles that stop the brain from growing. Facial surgery can also correct gaps or deformities in the jaws and other facial bones. But check-ups will continue throughout life, this condition will never be completely cured. Among the things that can be improved
Improvement of vision problems
Delays in growth and development can be corrected
Abnormal tooth patterns can be corrected
Can you get an education?
If there is no intellectual retardation or low intelligence, these children can study in normal or special education setup according to their mental capacity.
Can you get married?
Absolutely can. But their marriages are rare all over the world. If you get married, try not to have children.
0 Comments