A craniofacial disorder is any deformation or abnormality of the bones in the skull (cranium) or face. When a baby is born, the skull is made up of several plates of bone connected by soft areas called “sutures.” (One of these sutures is what people are referring to when they mention the “soft spot” on top of a baby’s head.) Typically, these sutures close and the bones fuse together to form one big skull bone in the first 6 to 18 months of a baby’s life. If the skull sutures fuse too early or abnormally, this can cause a craniofacial disorder, a skull shape deformity, which results from the skull bones’ inability to move correctly during brain growth.
Craniosynostosis is the medical term for premature closure of skull sutures. There are several different craniofacial disorders with different features and severity. These are related to the stage of development at the time of suture closing, the location of the bone fusion, and whether other open sutures adapt to allow for normal growth in other areas of the skull. Certain characteristics of facial and skull malformations are recognized as being caused by craniosynostosis (fusion) of a particular cranial suture.
Most craniofacial disorders are diagnosed before birth during an ultrasound, or shortly after birth, but some may not be recognized until after the first few months, after the baby’s head has had time to grow and develop characteristics of the disorder. Diagnosis is made by feeling the skull for suture closures, soft spots, and facial deformities. An x-ray can confirm the deformities, and a CT scan can determine whether there is brain involvement. There are many signs and symptoms of craniofacial disorders. Sometimes, restricted skull growth will cause pressure in the head/brain, accompanied by vision problems, headaches, and delays in development. There may also be problems with speech, eating, and hearing, frequent ear infections, or oral hygiene problems due to malformation of the mouth/teeth and ear structures. Some children with craniofacial disorders may be missing a specific facial feature, such as the nose or cheekbones. It is important to remember that not all babies born with a skull deformity have a craniofacial disorder. Many skull deformities at birth may be due to foetal head position or trauma during birth and will correct on their own. Specific visual and physical characteristics of craniofacial disorders are described below:
There are certain groups of signs and symptoms called syndromes, usually the result of a birth defect, that have known facial and skull abnormalities. Some examples include: Apert Syndrome, Treacher Collins Syndrome, Crouzon Syndrome, Binder Syndrome, and Pierre Robin Syndrome.
The single biggest risk factor for craniofacial disorders in children is genetics. They arise from a genetic disorder that is either inherited from the parents or due to a mutation in the child’s DNA. Therefore, it is unlikely that a craniofacial disorder can be prevented. However, many families with a child with a craniofacial disorder may receive genetic counselling prior to having another child.
Treatment of craniofacial disorders usually requires surgery to correct malformations in the skull and face and to help improve the functionality of the eyes, nose, mouth, and ears. These surgeries are often very complicated and may require multiple procedures. However, sometimes if surgery can occur very early in life, there are some minimally invasive procedures. Access to craniofacial surgeons may be difficult, but there are several worldwide health programs aimed at helping children with these disorders, including an organization called World CF. Other treatment, in addition to surgery, includes physical therapy, occupational therapy, and speech therapy.