Pfeiffer Syndrome
Posted: Thu Feb 05, 2004 9:28 am
Pfeiffer Syndrome
http://www.faces-cranio.org/Disord/Pfeiffer.htm
What is Pfeiffer Syndrome?
Pfeiffer Syndrome (first reported in 1964) is a condition resulting from
premature fusion of the sutures of the skull and deformity of the skull.
Characteristics include:
* skull is prematurely fused and unable to grow normally (craniosynostosis
)
* bulging wide-set eyes due to shallow eye sockets (occular proptosis)
* underdevelopment of the midface
* broad, short thumbs and big toes
* possible webbing of the hands and feet
Why did this happen?
There is no link between anything the mother did or did not do while she was
pregnant and the occurrence of Pfeiffer Syndrome. Doctors believe it is
caused by changes in the gene (FGFR 1 & FGFR 2) mapped to chromosome's 8 and
10. The cause of the change is not currently known.
Will this happen to children I have in the future?
If you have Pfeiffer Syndrome, there is a 50% chance that other children you
have will be born with it. If both parents are unaffected, the risk is very
small that it will occur in other children. If you or a family member has
Pfeiffer Syndrome, we encourage you to consider participating in a current
study through The Johns Hopkins Medical Institutions. Details are given
below.
What kinds of problems could my child have?
In addition to the physical characteristics common to Pfeiffer Syndrome,
your child may have the following problems:
* dental problems due to crowded teeth and often a high palate
* poor vision
* hearing loss in about 50% of children
Will my child need surgery?
Depending on the severity of Pfeiffer Syndrome, your child may have some or
all of the following surgeries:
* frontal orbital advancement to allow the skull to grow properly and to
increase the size of the eye sockets
* jaw surgery
* orthodontics work
* surgical advancement of the mid-face
With the proper treatment, most children with Pfeiffer Syndrome grow up to
have completely normal intelligence and normal lives!
http://www.faces-cranio.org/Disord/Pfeiffer.htm
What is Pfeiffer Syndrome?
Pfeiffer Syndrome (first reported in 1964) is a condition resulting from
premature fusion of the sutures of the skull and deformity of the skull.
Characteristics include:
* skull is prematurely fused and unable to grow normally (craniosynostosis
)
* bulging wide-set eyes due to shallow eye sockets (occular proptosis)
* underdevelopment of the midface
* broad, short thumbs and big toes
* possible webbing of the hands and feet
Why did this happen?
There is no link between anything the mother did or did not do while she was
pregnant and the occurrence of Pfeiffer Syndrome. Doctors believe it is
caused by changes in the gene (FGFR 1 & FGFR 2) mapped to chromosome's 8 and
10. The cause of the change is not currently known.
Will this happen to children I have in the future?
If you have Pfeiffer Syndrome, there is a 50% chance that other children you
have will be born with it. If both parents are unaffected, the risk is very
small that it will occur in other children. If you or a family member has
Pfeiffer Syndrome, we encourage you to consider participating in a current
study through The Johns Hopkins Medical Institutions. Details are given
below.
What kinds of problems could my child have?
In addition to the physical characteristics common to Pfeiffer Syndrome,
your child may have the following problems:
* dental problems due to crowded teeth and often a high palate
* poor vision
* hearing loss in about 50% of children
Will my child need surgery?
Depending on the severity of Pfeiffer Syndrome, your child may have some or
all of the following surgeries:
* frontal orbital advancement to allow the skull to grow properly and to
increase the size of the eye sockets
* jaw surgery
* orthodontics work
* surgical advancement of the mid-face
With the proper treatment, most children with Pfeiffer Syndrome grow up to
have completely normal intelligence and normal lives!