We’ve probably all heard of cleft lip or cleft palate. But have you heard of Treacher Collins Syndrome? Hemifacial Microsomia/Goldenhar Syndrome? Apert Syndrome? Craniosynostosis? Pfeiffer Syndrome? Along with cleft lip and palate, these are just a few of the many craniofacial conditions / syndromes that exist.
September is Craniofacial Awareness Month. But many ask: what is a craniofacial syndrome and why is awareness needed? So today I would like to share with you some of the basics…
What is a craniofacial syndrome?
Cranio means head/skull and facial means of the face. Craniofacial syndromes include a cluster of symptoms affecting the form, function, and appearance of the head, neck, and/or face. However, many syndromes can affect other parts of the body as well.
What causes craniofacial syndromes?
There is no single factor that causes all craniofacial syndromes. Some conditions and syndromes may be caused by disease or trauma. Some syndromes may be caused by a combination of genes or gene mutation. Some may be caused by a folic acid deficiency. Some may be caused by a broken blood vessel during early pregnancy. Some can be inherited while others cannot be passed on to future generations. And in some cases, there are just no clear answers. However, a geneticist is often able to provide additional information about possible causes and discuss the risks of having additional children with a craniofacial syndrome, as well as risks of the patient passing the syndrome on to their children.
When is a craniofacial syndrome diagnosed?
Some children are born with craniofacial conditions and will be diagnosed soon after birth due to apparent facial differences. Other syndromes aren’t apparent till a child is a few months old. Still others may be diagnosed after a disease or trauma has affected the head/neck/face.
What types of symptoms and medical problems might a craniofacial patient face?
Every craniofacial syndrome is different and each syndrome has different symptoms. Some general symptoms may include: difference in the shape of the head or facial features, hearing loss, speech and swallowing issues, feeding difficulties, breathing problems, vision impairments, skeletal abnormalities, heart and other organ problems, muscle weakness, facial paralysis, dental problems. Some syndromes may include absence of one or both ears, absence of a completed lip or palate, abnormalities of limbs and digits, abnormalities of the eyes. And although rare, some syndromes may cause cognitive delays and impairments. Surgeries and other medical procedures are often necessary to address medical issues.
How long do craniofacial patients face these symptoms and medical problems?
Most patients born with a craniofacial syndrome will face medical problems until at least skeletal maturity has been reached. However, most symptoms and conditions will affect the patient throughout their lifetime. Life expectancy is normal for most craniofacial syndromes, but certain symptoms and related conditions could affect longevity.
Where is the best place for a craniofacial patient to receive medical help?
Craniofacial Centers are located all over the country and offer team care to the craniofacial patient and their families. Teams and treatment plans are individualized for each patient, as each craniofacial patient is different and present with different symptoms and conditions. A craniofacial team may consist of a dentist, orthodontist, audiologist, geneticist, ENT, plastic surgeon, speech pathologist, social worker, psychologist, ophthalmologist, oral surgeon, neurosurgeon, orthopedic surgeon. Team members usually all see a patient on the same day then meet to discuss a treatment plan. These team visits can be overwhelming, but knowing that everyone is working together for the health of your child should be reassuring.
What do craniofacial patients want you to know?
Craniofacial patients want you to know that they are just like you. Everyone looks different, no two people are alike and it doesn’t matter what those differences are. They all just want to be accepted for who they are.
What can you do to help spread awareness?
Awareness and acceptance are crucial! Here are some ideas to help spread awareness:
- Share this article so others can become aware of craniofacial syndromes.
- Teach your children, your grandchildren, the neighbor kids, any kids to accept others for who they are, no matter what their differences are.
- Explain to the children (and the adults!) in your life that staring, pointing, and whispering makes everyone uncomfortable. If they have questions, just ask!
- Stress that bullying is never tolerated anywhere for any reason. And bullying comes in many different forms. We may have grown up saying that sticks and stones may break our bones but words will never hurt us. But we all know that words can indeed hurt.
- Learn more about craniofacial syndromes and diseases — I bet you have no idea how many are out there and to what degree they differ!
- Participate in a fundraiser to promote awareness and acceptance or donate to a craniofacial organization.
- And if you ever have the chance to get to know a craniofacial patient, do it. You won’t regret it!