& the Enigma of Chromosome No.10
Born With Apert's
His Big Sister
(These Links Will Open In New Browser Windows)
Craniofacial Surgery: Tennessee
Craniofacial Center Erlanger
Erlanger on Apert:
Nat'l Org. for Rare Disorders:
& Related Conditions
Craniofacial Work at Columbia:
Apert Syndrome: Faces-Cranio
Clinical Variability in Patients:
A CONGENITAL DEFECT FOR ONE IN 200,000
... BECOME SOLDIERS WHO ARE ONE IN A MILLION
BY JOHN MICKELSON
the first appearance of Apert Syndrome in a family is as rare as
one birth in 200,000 occurences, it is the result of a spontaneous
mutation at conception.
Yes, Apert syndrome is a result of genetic mutation.* When you
have Apert syndrome, you have a 1 in 2 (50%) chance of passing this
condition on to your child. This is because each of us gets 1/2 of
our genetic makeup from each parent. However, Apert is not a recessive
trait, which means that the UNaffected child of a parent with Apert
syndrome is no more likely to have a child with Apert than any other
person; also, if you have a child with Apert and you do NOT have
Apert, YOU are no more likely to have another child with Apert than
anyone else in the population. Studies have shown that Apert occurs
more often in children of older fathers.
Recently studies were conducted at Oxford University
and they managed to identify the actual genetic change which occurs
in Apert. The following is a quote from a letter sent to the test
families by Oxford.
"A total of 86 children and adults affected with Apert syndrome
have been seen. From the blood samples which have been donated for
research, we have identified the genetic change that causes the
condition. The change is in a gene on chromosome number 10 called
'Fibroblast Growth Factor Receptor 2'
(FGFR2 for short). We all have two copies of this gene (one from
mother, one from father), which is composed of a string of about
2000 of the chemical building blocks that make up the genetic material
called DNA. When Apert syndrome occurs, just one particular building
block in one of these two gene copies has been exchanged for another.
The other gene copy is entirely normal. This one tiny change in
the FGFR2 gene results in the physical features of Apert Syndrome."
A medical table describing the genetic characteristics of Apert
Syndrome can be found at the National Institute of Health's NIDCR
Dental, Oral and Craniofacial
APERT SYNDROME STORIES/SUPPORT
Teeter's Page. Major
site for Apert links and family-managed Apert
Apert Chat. Supplement
to the Apert ListServ. An Excite community.
Support Group at Harvard.
Andrea's Page. Personal
account from Andrea Gartner, a college student with Apert Syndrome.
Amy's Page. Personal
account from Amy Esler, a girl with Apert Syndrome.
Apert ListServ. An
of ListServ postings on Apert Syndrome.
of Matthew Romero, in conjunction with Children's Hospital of
Thrive Online: A
med library article on Apert Syndrome.
OTHER RESOURCES (These
Links Will Open In New Browser Windows)
Swedish Apert Syndrome Informat
Medical College of Wisconsin:
on Apert Syndrome
Formation and Eruption in Patients