What is Apert syndrome?
Apert syndrome is a combined craniofacial deformity with characteristic hand and foot malformations. It is one of a group of craniosynostosis syndromes (prematurely fused skull bones) termed “acrocephalosyndactyly.” A known genetic link exists, and it can be passed on from generation to generation. The syndrome was named for a French pediatrician named Eugene Apert, who first described the condition in 1906. a spectrum of undergrowth conditions or malformations related to the craniofacial skeleton.
The cranial deformity results from premature fusion of the coronal sutures of the skull, producing a shorter distance between the forehead and back of the head. This is called brachycephaly or bicoronal plagiocephaly. The midface is underdeveloped (ie, midface hypoplasia), and there is complete fusion of all fingers and toes. Apert syndrome occurs in approximately 1 in 160,000 newborns.
Can Apert syndrome be inherited?
Yes, Apert syndrome is inherited to varying degrees in an “autosomal dominant” fashion. In other words, each successive generation can exhibit the syndrome, regardless of an unaffected partner. As mentioned previously, the condition can arise spontaneously with a mutation of the FGFR2 gene.
What is the recovery from the surgeries for Apert syndrome?
Recovery from surgery for each component of Apert syndrome is highly variable. Usually, craniofacial procedures require hospitalization for several days, including a brief stay in a pediatric intensive care unit (PICU). Cleft palate repair requires an overnight stay. Swelling is significant following major cranial vault remodeling and tends to subside over the course of one week.
Hand surgery for Apert syndrome is significantly different. Although operating on several webs on both hands can take upwards of 8 hours to complete, most hand procedures can be done on an outpatient basis. Casting of the arms is required after every surgery for 2 to 3 weeks, depending on the degree of bony correction. However, children are allowed to engage in their regular activities right away. After the casts are removed, hand splints are fashioned by an occupational therapist to maintain the webspaces. They are worn every night for 3 months. During the day, the splint is taken off so that the child can use his or her hands.
Toe separation can be performed at any age, but is usually left towards the end in order to avoid interference with the more important hand and craniofacial surgeries. Similar to the hand procedures, the feet require a period of casting for 2 weeks following each surgery to ensure optimal healing of skin grafts and incisions.
Jaw or oral procedures will usually have dietary restrictions (soft diet only) for 6 weeks following surgery. All procedures require some level of scar management. The plastic surgeon should guide patients at every step.
Risks and Complications
What are the risks and complications of surgeries for Apert syndrome?
All procedures for correcting individual deformities related to Apert syndrome carry a different set of risks and potential complications. Extensive craniofacial procedures tend to carry a higher risk profile, but are still practiced safely in designated craniofacial centers. Airway complications are the most serious issue encountered. Anesthesia pre-evaluation is necessary to stratify risk and to make provisions at the time of surgery for successful intubation and postoperative management. In general, many of the risks encountered during surgery for Apert syndrome are directly proportional to the severity of the condition.
Stiffness of finger joints is common in Apert syndrome, with or without surgery. However, although fine finger movement is difficult to achieve, children with corrected Apert hand deformities lead very active lives with minimal limitations. When releasing webs, a chance of partial recurrence of the web is possible. This is called “webspace creep.” This sometimes requires deepening of spaces with another round of surgery or in combination with another procedure. Rarely, vascular compromise may lead to loss of a finger or toe. In addition, a rare complication of casting or compressive dressings is an elevation of pressures within compartments of the extremities, resulting in loss of circulation, nerve damage, and extreme pain. This requires emergent release of tight dressings and casts to avoid complications.
Bleeding, infection, and anesthetic complications are risks of any surgery. In addition, poor scarring or wound problems can occur rarely. Alopecia, or hair loss, may occur along the incision line within the scalp. More frequently, although improvement in function and appearance are possible, achieving perfect symmetry is elusive. Overcorrection or undercorrection may occur. Many times, revisional surgery will be required to improve scars, contour, or symmetry.
Why choose Dr Panossian
- He received his medical education at Tufts University School of Medicine.
- Graduated at the top of his class at UCLA, receiving Phi Beta Kappa and Summa Cum Laude honors.
- Was accepted into an elite combined general surgery and plastic surgery residency at the Keck School of Medicine of USC.
- Completed subspecialty training in craniofacial surgery at the Hospital for Sick Children in Toronto and Harvard Medical School.
- Was mentored by Dr. Ron Zuker in the practice of facial paralysis reconstruction. This prestigious fellowship position was available to only one surgeon in the United States.
- Is affiliated with various charitable and educational organizations, including Operation Smile and Mending Kids.
- Is a member of the American Society of Plastic Surgeons and the highly selective American Association of Plastic Surgeons, reserved for only a select group of individuals nationally who have demonstrated excellence in academic plastic surgery.
- Holds memberships in several other professional societies including the American College of Surgeons and the American Society of Reconstructive Microsurgery.
- He serves on the Board of Directors for Mending Kids and the Gondobay Manga Foundation, a non-profit organization dedicated to the improvement of lives in Sierra Leone.
- Has been nominated by his peers annually since 2012 as a “Super Doctor.”
- Served as an expert medical consultant and appeared on The Doctors, Grey’s Anatomy, and Nip/Tuck.
- Has been featured as “Top Doctor” in US News and World Report, Pasadena Magazine, and Los Angeles Magazine.
Last modified by Dr. Andre Panossian