Craniofacial birth defects include manifestations like cleft lip or palate, eyes too closely or widely spaced, deformed ears, eyes mismatched in colour, and facial asymmetries.
Surgery, dental care, psychological counselling, and rehabilitation may help to ameliorate the problems but often at great cost and over many years.
Although each developmental craniofacial disease or syndrome is relatively rare, the number of children affected worldwide is in the millions.
In addition, craniofacial defects form a substantial component of many other developmental birth defects, largely because they occur very early in gestation, when many of the same genes that orchestrate the development of the brain, head, face, and mouth are also directing the development of the limbs and many vital internal organs.
As such, these conditions are something a dentist may eventually have to accommodate.
Altered Branchial Arch Morphogenesis (Cleft Lip/Palate and Cleft Palate)
Among the most common of birth defects are clefts of the lip with or without cleft palate and cleft palate alone.
Cleft lip/palate and cleft palate are distinct conditions with different patterns of inheritance and embryological origins.
These anomalies result from the failure of the first branchial arches to complete fusion processes.
Clefting can occur independently or as part of a larger syndrome that may include mental retardation and defects of the heart and other organs.
Not all cases of clefting are inherited; a number of teratogens (environmental agents that can cause birth defects) have been implicated, as well as defects in essential nutrients such as folic acid.
Treacher Collins Syndrome —Mandibulofacial Dysostosis
Children with Treacher Collins syndrome have downward-sloping eyelids; depressed cheekbones; a large mouth; deformed ears with conductive deafness; a small, receding chin and lower jaw; a highly arched or cleft palate; and severe dental malocclusion.
Pierre Robin Syndrome
Deficient development of the first-branchial-arch-derived mandibular portion results in the lower jaw’s being set far back in relation to the forehead.
As a result, the tongue is set back and may obstruct the posterior airway, compromising respiration. Cleft palate may be another consequence.
The primary defect in the DiGeorge syndrome results from altered development of the fourth branchial arch and the third and fourth pharyngeal pouches.
Deficiencies affecting the thymus, parathyroid glands, and the great vessels that derive from these structures result.
The facial features are subtle and include a squared-off nasal tip, small mouth, and widely spaced eyes.
I hope this article serves to broaden awareness of these conditions, but I would like to hear more about how dentists are overcoming these challenges in their practice.
If you treat patients with these or similar craniofacial conditions, feel free to get in touch. Leave a comment here, or find me on social media: