Introduction
The abnormalities of the craniofacial complex are a significant problem affecting dental health, mental health, and social well-being. The anomalies of the craniofacial complex are caused by idiopathic external forces. An abnormal form, shape, or position of a part of the body can occur due to mechanical forces. The word syndrome is derived from a Greek word that means run together. The syndrome is the association of several recognizable signs, symptoms, and features resulting from various malformations that occurs during fetal development. The pathology of craniofacial skeletal syndrome involves the early fusion of cranial vault and base sutures. It is also associated with abnormal facial features. The primary pathology is that there is no premature suture closure.
What Are Cranio-Facial Skeletal Syndromes?
A morphological defect of an organ, part of an organ, or a large body region is due to an abnormal developmental process. The morphological changes due to teratogens such as drugs and viruses are considered disruptions. The disruptions are not inherited. The abnormalities inherited from genes can only influence the face's developmental abnormalities and cause disruption. The newborn skull consists of bones separated by soft areas called sutures. The sutures close in the first six to eighteen months, and the skull becomes one piece. Craniofacial malformations result from an infant’s head or facial bones fusing too soon or abnormally. When the bones fuse too early, the brain becomes quickly damaged as it grows and cannot expand properly. As a result, the infant can develop neurological problems.
What Are the Differences Between Malformations, Deformation, and Disruption?
Most congenital abnormalities (abnormalities that arise from birth) are divided into three types- malformations, deformation, and disruption. Disruption is the breakdown of normal fetal development due to external forces seen in facial clefts. Malformation is the most common cause of craniofacial abnormalities. It is a morphological defect in an organ or area of the body caused by abnormal intrinsic development. Extrinsic factors cause deformation. For example, clubfoot is caused by intrauterine compression.
What Are the Signs and Symptoms of Cranio-Facial Abnormalities?
The signs of craniosynostosis are usually very apparent at birth. They become more prominent during the initial few months of the infant's life. Symptoms and severity depend on how many sutures are fused and when in brain development, the fusion occurs. The skull shape depends on how and when the sutures are affected. A misshapen head, with the form depending on which of the sutures are involved. Development of a raised, rugged ridge along affected sutures, with a change in the form of the head that's not typical. Craniofacial abnormalities are mild and severe and can affect certain skull parts. The following are examples of the craniofacial skeletal syndrome:
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Apert syndrome (a genetic disorder that causes abnormal development of the skull).
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Brachycephaly (infant skull deformity characterized by short anteroposterior skull length).
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Crouzon syndrome (a genetic disorder where there is premature closure of skull bones).
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Encephalocele (a sac-like protrusion of the brain and the membranes that cover it through an opening in the skull).
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Oxycephaly (skull deformity due to premature closure of skull sutures).
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Pfeiffer syndrome (premature fusion of skull bones).
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Pierre Robin Syndrome (congenital abnormality characterized by backward displacement of the tongue, underdeveloped jaw, and upper airway obstruction).
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Plagiocephaly (asymmetrical distortion of the skull).
What Are the Causes of Cranio-Facial Skeletal Syndromes?
The causes of craniofacial skeleton syndrome are unknown or idiopathic. The grounds in newborns and infants are idiopathic. Genetic factors are the main reason for this disorder. A single gene can cause congenital syndrome. In most cases, the causes can be due to environmental factors such as diet and environmental factors affecting the mother and fetus during pregnancy. Non-syndromic craniosynostosis is one of the most standard types of all syndromes. Syndromic craniosynostosis causes specific genetic syndromes. The genetic syndromes are Apert syndrome, Crouzon syndrome, and Pfeiffer syndrome, which can affect a baby's skull development. They cause neurological disorders with added health problems.
What Are the Types of Cranio-Facial Skeletal Abnormalities?
There are several types of craniofacial skeletal syndromes. Some involve defects in the fusion of a single suture. Other syndromes involve a failure in the fusion of multiple sutures. In addition, multiple craniofacial skeletal syndromes are associated with genetic syndromes. The types of craniofacial skeleton abnormalities include:
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Sagittal (Scaphocephaly) - The sagittal suture runs from the front of the head to the back. It causes the skull to grow long and narrow. Premature fusion causes this defect. The head shape is called scaphocephaly.
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Coronal - The coronal suture runs from one end of the year to the other end of the ear on the head. The premature fusion of the coronal suture can cause bulging of the head on one side. The other side appears to be expected. It also leads to the turning of the nose and a raised eye socket side. If both the sutures fail to close, the forehead moves forward.
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Metopic - The metopic suture crosses from the top of the nose and then runs through the midline of the forehead to reach the anterior fontanel and the sagittal suture. The head shape is called trigonocephaly. The forehead protrudes, and the back head region widens.
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Lambdoid - Lambdoid synostosis is a rare type of craniosynostosis involving the lambdoid suture. Lambdoid suture runs along the back of the head. Premature closure can cause the baby's head to appear flat on one side. One ear seems to be higher than the other ear. This is because the head stays tilted on one side.
What Are the Diagnosis Tests for the Cranio-Facial Skeletal Syndrome?
Some syndromes are apparent at birth, while others are not obvious until a baby’s head becomes significantly more prominent over the first few months. Most of the time, a craniofacial abnormality is identified by an examination alone. An MRI (magnetic resonance imaging) or CT (computed tomography) scan is used to help clarify the diagnosis. Babies' heads increase during the first year of life. So the treatment is done early. The pediatrician may recommend observation for a few weeks or months to see if the disease will progress. A neurosurgeon also gives the most appropriate treatment.
What Is the Treatment for Cranio-Facial Skeletal Abnormalities?
To maximize the function, surgery is done to correct the functionality of the child at an early age. The surgeries are complex and intensive. They require the removal and reshaping of certain parts of the skull. Pediatric craniofacial plastic surgeons work with pediatric neurosurgeons to reshape the child's head for better results. Skull reconstruction will involve sutures, plates, wires, and small screws to stabilize the bone and protect the brain as the child grows. Unfortunately, these materials are often too small to be felt under the skin. A multidisciplinary approach is required for the treatment of the craniofacial syndrome. The team includes a plastic surgeon, neurosurgeon, orthodontist, oral surgeon, speech pathologist, psychologist, and geneticist.
Conclusion
The child’s abnormality can be diagnosed before the child ages three. A multidisciplinary approach, including surgical procedures, is required to treat craniofacial syndromes. The care should be continued after the treatment also. There are endoscopic techniques available to reduce the risk of blood transfusions. The complications related to open surgery can be reduced by using these endoscopic techniques. Minimally invasive procedures can also be used. A helmet is worn for a particular age to guide the developing bones so they can fuse adequately.
