Craniosynostosis May Stump Physicians: A Surgeon Strives For Clarity For Affected Babies

Leading New York Plastic Surgeon David A. Staffenberg, MD Calls For Enhanced Education in Medical Schools And For Pediatricians And Their Staff To Recognize Craniosynostosis Paving The Way Towards Healthy Child Development

The field of medicine has seen more advancement and discovery in the last half-century than in all the previous years of medical science. Yet there are still disorders that remain challenging to medical professionals and that prove vexing to trained specialists. Education, experience and understanding are key to unlocking the obstacles to correctly identifying a disorder — and putting the patient on the path to full recovery.

A case in point is Craniosynostosis, a medical condition that may affect up to one in every 2,000 births.

Craniosynostosis occurs when the sutures between the sections of bone in the skull of a newborn fuse prematurely. This can inhibit normal growth of the skull and result in anything from a misshaped head and protruding or misaligned eyes, to more serious problems like increased pressure on the brain or an obstructed airway. Pressure on the developing brain can lead to inhibited intellectual growth, seizures, and to a range of problems affecting cognitive development.

In addition, children with undiagnosed Craniosynostosis may develop misalignment of the spine, torticollis or wryneck, and any of a number of other physical abnormalities that may grow more severe and even life-threatening over time.

According to David A. Staffenberg, MD, DSc Chief of Plastic Surgery at Montefiore Medical Center and Surgical Director of the Center for Craniofacial Disorders at The Children’s Hospital at Montefiore in The Bronx, New York (www.montekids.org), the incidence of Craniosynostosis might be more common than originally believed. This, he feels, is due to under-diagnosis on the part of doctors and other health professionals, stemming from a lack of awareness of the signs and symptoms of the syndrome. The problem may be rooted in the fact that one kind of Craniosynostosis may be mistaken as deformational plagiocephaly which is very common in newborn babies.

This common disorder and coronal Craniosynostosis both include flattening on one side of the head but the latter tends to improve on its own. By the time a baby is noted to be worsening, a critical amount of time may have passed. It is crucial that we increase awareness within the medical community in detecting Craniosynostosis early and taking remedial action, most often in the form of surgery.

“We’ve begun to think that Craniosynostosis might be more common than we thought,” Dr. Staffenberg explains. “If a baby develops a problem that doesn’t cause them to be obviously sick or to be rushed to the emergency room, it can be missed. And with no reliable blood test, the diagnosis is perhaps more difficult for a doctor to make.” We have found that parents feel that something is wrong with their baby’s head, but finding information and guidance is a challenge. The situation is worsened when they are told that the problem is ‘just cosmetic’.” 

Therein lay the importance of educating the medical profession about Craniosynostosis, its symptoms and the ramifications if gone untreated. The benign abnormality known as “bed head” that occurs with some infants and that usually corrects itself is often the culprit in physicians’ overlooking Craniosynostosis as the correct diagnosis. “Parents talk about the ‘funny head’ that gets better with time and that, in most cases, is not Craniosynostosis,” Dr. Staffenberg says. “But if that one baby does have Craniosynostosis and is not diagnosed, then they have a problem. Like a ripple in a pond, the issues grow over time. Timing of surgery may be crucial.”

Dr. Staffenberg says he doesn’t mean to suggest that doctors are  unaware of Craniosynostosis, but that increased awareness is needed at all levels of the profession to train to spot the syndrome early enough to intervene successfully. “We need to help medical professionals to understand that these babies need to be identified early,” he says. “Even though the quality of this complex reconstructive surgery may be judged by the cosmetic improvement, it is not cosmetic surgery. If we can get a good cosmetic reconstruction” the baby will be well on the way to leading a normal life, he says. “All it requires is getting on top of it early.”

As part of his mission Dr. Staffenberg works closely with The Jorge Posada Foundation,  established by New York Yankees’ All-Star catcher Jorge Posada and his wife, Laura. Their son was born with Craniosynostosis and the foundation has raised funds for and awareness about the syndrome, helping families affected by Craniosynostosis. Dr. Staffenberg is also working on a poster that will be disseminated throughout the medical community to educate physicians, nurses and other healthcare professionals about detecting the syndrome and acting quickly to eradicate it. The poster is being distributed first to medical professionals in Florida.

“When I went to medical school in New York I had no awareness of Craniosynostosis,” Dr. Staffenberg recalls, aside from encountering it in textbooks in the corner of the library. Very few doctors will recognize it if they’ve just read it in a textbook. “Pediatricians may never see a child with Craniosynostosis, but if pediatricians see our poster we hope that they will keep Craniosynostosis in their minds when evaluating babies with unusual headshapes, and then refer these babies and their families for evaluations. Treating Craniosynostosis is rewarding because in the vast majority of cases, these babies do not need lifelong medication; we can correct the problem with an operation, and we can put that baby back on track to enjoy all that life has to offer, Dr. Staffenberg says.

Beyond the physical challenges that may be presented by Craniosynostosis, there are the emotional scars that can plague a child as he or she matures. Malformations of the face and head can lead to low self-esteem and behavioral issues. Like a child with a cleft lip who appears ‘different’ from other children, he or she may act out as a result. “People think that a child with a cleft lip will not fit in because they look different than the other children; It’s a self-fulfilling prophecy. But if we can correct the visible difference, we can boost their confidence and help them fit in. This is ultimately what matters most to them,” Dr. Staffenberg says. “If they are not given this opportunity, it can keep them from participating in sports, or really stigmatize them.” He adds, “Because it doesn’t cause illness or death doesn’t make it any less deserving of our attention. Craniosynostosis is simple to recognize and so treatable; why leave it neglected? Why make the diagnosis late or even miss the diagnosis? If we catch the cases and do the right operation during the right window of opportunity, they’ll do just fine. The longer we wait, the greater the chance of needing more operations” and the higher the concomitant risk, he says.

“Awareness”, Dr. Staffenberg says, “is a huge part of what we do” at Montefiore Medical Center. He lectures often on Craniosynostosis and other pediatric craniofacial disorders. “There are an awful lot of doctors out there; they all do the best they can to keep up with the ever-expanding world of medicine, but how many can we get to?” In the New York region there are a small handful of physicians performing Craniosynostosis surgery, he says. And parents, like physicians, also need to be educated. Like a woman who undergoes self-examination for breast cancer, parents also need to be attuned to Craniosynostosis and abnormalities in a baby’s development, Dr. Staffenberg explains.

In the end, understanding Craniosynostosis is key to helping families avoid the physical disabilities and emotional trauma that can evolve when the syndrome goes undiagnosed and untreated. Dr. Staffenberg asserts that he is committed to disseminating awareness about Craniosynostosis, and allowing children to develop to their own healthy potential. “For me, it’s easy to be passionate about this. When we see babies, we always want them to have the opportunity to grow up and pursue their dreams.”  

Jorge Posada Foundation 

The Jorge Posada Foundation is a non-profit organization established by the New York Yankees’ All-Star Catcher, Jorge Posada and his wife, Laura. Their son, Jorge Luis, was diagnosed with Craniosynostosis when he was just ten days old.  The Jorge Posada Foundation provides support to families whose child is affected by Craniosyn>>