Eight Important Questions for Pfeiffer Syndrome

Eight Important Questions for Pfeiffer Syndrome

It is a rare disorder which has been assoiciated with a premature fusion of the skull sutures, big toes, broad and deviated thumbs, and webbed fingers and toes. On average it effects about 1 out of every 100,000 people in the whole world.

For now, there is no factual proof that what the mother did or did not do, was the reason for gaining Pfeifer Syndrome. Actually, it is caused by a single mutation (change), for a gene which is located in the fibroblast growth factor receptor. When cells want to divide or mature, it must first get the go signal from the fibroblast growth factor receptor.
So a malfunction in that gene would most likely cause premature fusion of the bones of the toes, fingers, and skull.

If You Have Pfeiffer Syndrome, What are the Chances that it will pass to my Offspring?

Since Pfeiffer syndrome is a rare and autosomal dominant disorder, it only needs one parent for it to be passed off to the next child. So, basically if a parent has Pfeiffer Syndrome, chances are 50/50 of the child having the disorder.

As said above, with Pfeiffer Syndrome, you will notice abnormal toe and finer sizes or webbing of either.
For an unaffected child, the skull evenly expands as the brain grows. But for a child with Craniosynostosis, one to two sutures may have prematurely fused, and this will cause asymmetric growth of the skull and face.
50% of children with Pfeiffer Syndrome have some type of loss of hearing. Dental problems may become apparent also, along with visual problems such as increased intracranial pressure from the premature combination of the cranial sutures.

It is usually diagnosed by the presence of the premature fusion of the cranial bones and the broad, short thumbs and the first toes.
They also consider syndromes such as Apert, Crouzon, Saethre-Chotzen and Jackson-Weiss.
Some may say use a prenatal scan, but that does not work very well, because Pfeiffer Syndrome varies a lot.

Children with Pfeiffer Syndrome can get multiple, complex surgeries which are also best maintained by a multidisciplinary craniofacial team. That team would be composed of a neurosurgeon, plastic surgeon, dentist, orthodontist, geneticist and pediatrician.
Doctors will use hearing tests early on to determine whether or not ear surgery will be needed.
Must consult a dentist during the second year of life
Now for the webbed fingers and feet, patients might also want to get surgery done to remove these.
Early surgery can fix the prematurely jointed sutures, and this may be recommended right when the patient is diagnosed.