Craniofacial anomaly is a term used to describe conditions that affect the structures of the skull, face, and jaw. These often vary in their severity, with some only leading to minor cosmetic alterations, while other anomalies can lead to more serious issues that can affect a sufferer’s quality of life.
Normal functions such as eating, breathing, swallowing, seeing, and even hearing can be affected. There is also the stigma of appearance and how facial disfigurement is treated in society. This can lead to psychological issues, such as anxiety and depression, in those affected by these anomalies.
A craniofacial anomaly is a defect that affects the bones and some of the soft tissues of the head and face. These anomalies can involve abnormalities in the size, shape, or positioning of the skull, as well as alterations to the facial features such as the eyes, nose, and mouth.
Some craniofacial anomalies occur on their own, while others are part of a complex syndrome or genetic condition, and this is thought to be the most common cause of such physical conditions.
It is not just the appearance of craniofacial anomalies that has an impact on a person’s life. These conditions, in their severest forms, often affect communication, the senses, and the ability to carry out basic needs such as eating and breathing.
While many craniofacial anomalies are present at birth, some may not appear until later in childhood or even adulthood.
One of the most common cranial anomalies is cleft lip and palate. A cleft lip is a split or opening in the upper lip which disturbs the lip’s symmetrical shaping. While a cleft palate is a split or opening in the roof of the mouth.
These occur when the tissues that form the face and mouth do not fuse properly during development in the womb.
Cleft lip and palate can vary in severity, with some individuals experiencing a small notch in the lip or palate while others may have a more significant opening that affects speech and feeding.
Treatment for cleft lip and palate involves surgery to seal the gaps and improve function and appearance.
There are a variety of causes thought to be behind cranial anomalies. These include genetic factors, environmental exposure to toxins, and factors that remain unknown.
Some anomalies may be inherited from parents who carry certain genetic mutations, while others may occur spontaneously due to a random genetic change.
Exposure to toxins, infections, or certain medications during pregnancy can also increase the risk of craniofacial anomalies. Additionally, factors such as advanced maternal age, poor nutrition, smoking, and consuming alcohol during pregnancy can also contribute to the development of these conditions.
Treatment for craniofacial anomalies depends on the specific condition and its severity. In many cases, surgery is the gold standard and most effective treatment available. Despite the highly invasive nature of major facial surgery, it is the only option that can help to correct structural abnormalities, improve function, and enhance appearance.
Other treatments are often post-operative, such as speech therapy and orthodontic care. However, counselling that addresses emotional and social challenges is often ongoing beyond corrective surgery and recovery.
While it may not always be possible to prevent craniofacial anomalies from developing in certain individuals, there are steps that expectant parents can take to reduce their risk. This includes maintaining a healthy lifestyle before and during pregnancy, avoiding harmful substances such as drugs, alcohol, and tobacco, and seeking genetic counselling if there is a family history of craniofacial anomalies.