There are many differnt types of Craniofacial Abnormalities that really result in characteristic dysmorphology. Some of the more common syndromes we see include Pierre Robin Sequence, Hemifacial Microsomia, Vascular Malformation, and Hemangioma and there are many other syndromes as well but these are some of the more common ones that we see. Children with Craniofacial Abnormalities often have complex needs. They generally have difficulty feeding, difficulty swallowing, many will have airway compromise, often they will have complex dental needs, many will require corrective jaw surgery later in life and some will also have hearing loss and need to be closely followed by an otolaryngologist. Some patients with Craniofacial syndromes will be diagnosed prenatally and that’s improving as our diagnostic tools such as ultrasounds are improving. That being said, still, the majority of children are diagnosed after birth and it often requires the involvement of a geneticist to pinpoint the exact syndrome and a genetic workup to determine what gene if there is a gene that’s causing the problem.
Understanding the underlying genetic diagnosis can be helpful for monitoring the child as they grow to look for other issues. One example might be a child with Sticklers Syndrome often go on to develop some eye problems. So if you know that the child has Sticklers, you’re going to watch them a lot more closely so that you’re sure they’re being followed by a pediatric ophthalmologist so that if they do develop those problems, it’s caught early and intervention can be expeditious. So if a child isn’t appropriately diagnosed early when intervention is needed this can really impair their growth and development and lead to failure to thrive. From a surgical perspective, these children also undergo a stage reconstructive approach. There’s an appropriate time to intervene and while some surgeries are needed early, for a lot of these children, they actually benefit from having delayed intervention from a surgical perspective. So, really the most immediate needs for the child are related to weight gain or appropriate development early in life versus surgical intervention.
Many children with underlying Craniofacial syndrome will require corrective jaw surgery later in life. What surgical procedure they need is determined by the underlying diagnosis but almost all of them will benefit from having a corrective jaw surgery but again that’s usually done more toward skeletal maturity and so it’s important that the family waits to intervene until the timing is appropriate. Now, that being said, early intervention is often indicated if there are increased airway concerns such as sleep apnea, etc. and that might twist our arm as providers to move forward into surgery earlier than anticipated. Having an appropriate understanding of growth and development and respecting those boundaries is important for determining surgical success long-term.