“There are many questions to ask about Pfeiffer Syndrome during this confusing time.”
There are important questions that you may want to ask about Pfeiffer Syndrome if your child or someone that you know has the syndrome. This is because you want to become as familiar as possible with the syndrome in order to get answers and know your next plan of action. This can be a troubling time, and getting the answers you’re searching for is important so make sure to ask these, and other important questions about Pfeiffer Syndrome when the time comes.
- What is Pfeiffer Syndrome?
It is a rare disorder that affects the genes in the body, and it is associated with the premature fusion of the skull sutures, broad, deviated thumbs, big toes, and webbed toes and fingers. It affects around 1 out of every 100,000 people throughout the entire world.
- What Causes Pfeiffer Syndrome?
There is no proof that is known of as of yet that what the mother did, or perhaps did not to during pregnancy was the reason for the child to gain Pfeiffer Syndrome. It is caused by a single mutation or change in a gene that is located within the fibroblast growth factor recptor. When the cells want to divide and mature, it has to get the signal from the fibroblast growth factor receptor in order to do so. There is no signal that is sent, and it is done too soon. This is the malfunction that causes the syndrome to happen.
- What are the Chances of me Passing Pfeiffer Syndrome to my Offspring if I have it?
Since Pfeiffer Syndrome is rate and it is an autosomal dominant disorder, it only needs to have genes from one parent to be passed off to the next child. If a parent has this syndrome, then chances are 50 percent that the child may have the disorder as well.
- How Can I Recognize the Condition in my Child?
You will notice that the child has abnormal toe or finger sizes or that they may have webbing in both or either or. The skull evenly expands when the brain grows in an unaffected child, with a child that has Pfeiffer Syndrome one or two of the sutures within the skull may have fused prematurely leaving asymmetrical growth of the skull and face when the brain grows. 50 percent of the children affected by Pfeiffer Syndrome has some type of hearing loss, dental problems, as well as visual problems. This is due to the increase intracranial pressure from the premature fusion of the skull sutures.
- Is There More Than One Level of Pfeiffer Syndrome?
Yes, there are actually three different levels or severities of Pfeiffer Syndrome.
- Type I: This is premature fusion of the cranial sutures, but not a lot of other deformities.
- Type II: a “cloverleaf” shaped skull with other deformities, and even mental retardation.
- Type III: This is the same as type II but without the “cloverleaf” shaped skull.
- How is Pfeiffer Syndrome Diagnosed?
It can be diagnosed by the presence of premature fusions in the cranial bones and with broad, short thumbs and big toes. There are also other syndromes to consider with the same characteristics such as Apert, Saethre-Chotzen, Crouzon, and Jackson Weiss. There might be tests done through prenatal testing, but they are not as accurate since the syndrome can vary a lot.
- What are Treatments that are Available to Those with Pfeiffer Syndrome?
There are multiple, complex surgeries that can be underwent and best maintained with a multidisciplinary craniofacial team. They will have a plastic surgeon, dentist, neurosurgeon, orthodontist, pediatrician, and geneticist on hand during the surgeries. Doctors will also use hearing tests earlier on in life to determine whether ear surgery will be needed or not. A dentist should be seen by the second year of life. Webbing in the toes and fingers can be removed with simple surgery. The prematurely jointed sutures can be fixed early on in life, and this is usually recommended right when a diagnosis is made.