Genetics may hold the key to a disfiguring and disabling --but surgically treatable-set of birth anomalies, a condition known as craniosynostosis. The chief of pediatric plastic surgery at NYU Langone Medical Center in Manhattan, David Staffenberg, MD said craniosynostosis, a problem in which the bones of a newborn's skull fuse prematurely, appears to usually be related to a spontaneous mutation. The condition occurs in 1 of every 2,000 births, he sai
Genetics may hold the key to a disfiguring and disabling --but surgically treatable—set of birth anomalies, a condition known as craniosynostosis.
The chief of pediatric plastic surgery at NYU Langone Medical Center in Manhattan, David Staffenberg, MD said craniosynostosis, a problem in which the bones of a newborn’s skull fuse prematurely, appears to usually be related to a spontaneous mutation. The condition occurs in 1 of every 2,000 births, he said.
As yet, no one knows why. The medical school is involved in multidisciplinary studies with other institutions to genetically analyze these patients in part through studying cellular material from the fused skull bones of NYU’s craniosynostosis patients, he said.
“It seems to be something going on with the dura—the layer under the skull—and the pericranium, the tissue over the skull,” Staffenberg said. If the genes involving the growth factors that influence these tissue mutate, that would likely cause changes in the timetable for normal skull fusion along seams known as sutures.
One riddle is that of why NYU is seeing an increasing number of craniosynostosis patients with a particular form of the disorder known as metopic craniosynostosis, a premature fusing of the skull suture that runs from the top of the head straight down the face to the bridge of the nose.
“When I was starting out metopic craniosynostosis was about 2% of the cases and now we are seeing that about 30% of our cases are metopic,” he said.
Some of that increase may be due to selection bias, Staffenberg said, since the center has a strong reputation for successful surgery in these cases.
NYU has attracted patients from across the country and around the world, he said.
In all types of craniosynostosis, the damage comes because the premature fusions make skull too small and rigid to contain the growing brain.
“The brain will do whatever it can to grow and when it doesn’t have room it will push out,” he said, resulting in a deformed skull and sometimes misshapen eye sockets and other problems. If left uncorrected, craniosynostosis can lead to neurological problems and severe headaches.
The emotional consequences for these children can be devastating, said Staffenberg, leading to teasing and bullying and social isolation.
Sometimes craniosynostosis is part of a constellation of other symptoms, but in over 90% of cases, Staffenberg said, “It’s not part of a syndrome but simply isolated to the bones in a baby’s skull.”
The challenge for physicians is to come up with the best surgical and medical strategies to help the child, and his or her worried parents.
In the early days of his practice that meant using titanium screws and other metallic parts to guide the skull bones into proper position after surgically separating them.
“Now we use dissolvable polymers—no metal, no stainless, no titanium, but little plates and screws to give these babies’ skulls the shape and strength they need so they usually won’t need helmets,” he said.
“When I think back on how we used to do this it was like taking only one club to a golf course,” Staffenberg said, but since then he and colleagues have devised many surgical techniques.
“What we always hope for is that these children can be identified early and that parents get access to good information,” he said. Too often they get unfiltered information online that has “lots of scary pictures that can be heart-breaking.”
But with proper surgery, “These children can look normal by lunchtime.”
Staffenberg discusses treatment in the videos below.