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Understanding Its Role In Dental Medicine

– Dr Mriganka Shekar Bose


Craniofacial Medicine is that branch of allopathic medicine that deals with the study of craniofacial anomalies and their treatments. Anomalies of the craniofacial complex are of major concern, not only for oral health but also for mental health and social well being. Craniofacial Medicine involves doctors from-

  • Dentistry
  • Plastic Surgery
  • Neurosurgery
  • Paediatrics &
  • ENT Surgery.

Specialist doctors from dental medicine such as

  • Oral & Maxillofacial Surgeons
  • Orthodontists
  • Paediatric Dentists &
  • Prosthodontists

are involved with doctors along with specialities of medicine mentioned above, in planning & providing treatments to patients with craniofacial anomalies.

The catch with craniofacial medicine is that the anomalies are very vast and varied. For most of the cases, it is very difficult or even impossible to describe a single cause. They mostly occur collectively as a ‘syndrome’, which needs to be identified and treated accordingly with a multidisciplinary team approach – and a dentist should be aware enough to know that he/she is a crucial part of this team in diagnosis and treatment, which is the attempt made by this article.

What is a syndrome?

Syndrome can be defined as the aggregate of signs and symptoms associated with many morbid process and constituting together the picture of the disease, related to each other.

Classification: Richard & Goodman classified the syndromes as

  • Chromosomal abnormality.
  • Gene abnormality.
  • Environmental factors.
  • Embryological classification.
  • Single germ layer involved.
  • All the three germ layers involved.

Syndromes associated with mid face deficiency: Role of dentist in craniofacial medicine


  • Autosomal dominant.
  • About 90% of the cases show gene mutation.
  • Old parent age is a contributing factor.
  • Frequency is about 1 in 5000 births.

Clinical Features:

  • Class 3 malocclusion.
  • Short limb dwarfism.
  • Waddling gait.
  • Prominent buttocks.
  • Short metacarpals, phalanges.
  • Protuberant abdomen.


Treatment of class 3 malocclusion and mid face deficiency is done by LeFort 3 osteotomy for the advancement of mid face.


  • Autosomal Dominant.
  • Incidence is 1 in 25000 births.

Clinical Features:


  • Mandibular defects
  • Open bite.
  • Micrognathia.


  • Macrostomia.
  • Auricular defects.
  • External auditory canal defects.
  • Malocclusion.
  • Pre-auricular sinuses.

Other Features:

  • Fish like facial appearance.
  • Mental retardation.


  • Zygomatic & Orbital reconstruction.
  • Maxillo-mandibular reconstruction.
  • Nasal reconstruction.
  • Soft tissue reconstruction.
  • External ear reconstruction.
  • External auditory canal & middle ear repair.


  • Autosomal Dominant.
  • Most common sporadic.
  • Frequency: 1 in 16000 births

Clinical Features:


  • Short anterior posterior diameter with high full forehead and flat occipit.
  • Irregular cranio synostosis especially of coronal suture.


  • Dental Crowding.
  • Delayed Eruption.
  • Ectopic Eruption.
  • Class 3 malocclusion is usually seen.
  • V shaped dental arches.
  • Flat Faces.
  • Shallow orbits.
  • Maxillary hypoplasia.


  • Surgery to increase intracranial space
  • Surgery to increase the orbital volume
  • Surgery to enhance the morphology of forehead and upper orbits
  • Orthodontic treatment.


  • Autosomal Dominant.
  • Associated with paternal age >35 years.
  • Frequency: 1 in 25000 births.

Clinical Features:

  • Mandibular Prognathism.
  • Inverted V shaped palate.
  • Facial features may include curved, parrot like nose.


  • Prophylactic dental care is essential.
  • Some teeth may be need to be extracted to relieve crowding.
  • Functional space maintainers can also be used.
  • Placement of orthodontic devices to expand the palate.
  • Midfacial advancement and jaw surgery can also be done.


  • Also known as Cleidocranial Dysostosis.
  • It mostly affects the bone and teeth.
  • Autosomal Dominant.
  • Life expectancy is generally normal.

Clinical Features:

  • Collarbones (clavicles) can be partly missing- typically either poorly developed or absent.
  • The mandible is prognathic due to hypoplasia of maxilla and other facial bones.
  • Cementum formation is deficient.
  • Failure of eruption of permanent teeth.


  • Cranio-facial surgery is advised to correct skull defects.
  • Prosthodontic and orthodontic treatments are advised.


  • Rare multi systemic genetic disorder that affects the connective tissue.
  • The most serious complications involve the heart, aorta, with an increased risk of mitral valve prolapse and aortic aneurysm.
  • The lungs, eyes, bones and the covering of spinal cord are commonly affected.
  • Autosomal dominant disorder.

Clinical Features:

  • Mouth: Abnormally raised roof of the mouth.
  • Crowded teeth.
  • Blurred vision etc.


  • There is no cure for Marfan Sundrome.
  • Patients with Marfan Syndrome show a tendency for increased gingival inflammation, so oral prophylaxis of the dentition is advisable to reduce bacterial biofilm and to improve gingival health.


  • It is a congenital disorder that affects the development of the lower half of the face, most commonly the ears, the mouth and mandible.
  • It usually occurs on one side of the face but both sides are sometimes affected.
  • It is the second most common birth defect of face after cleft lip and palate.


  • Surgery is required, particularly when there is severe disfiguration of jaw and it is common to use a rib graft to help correct the jaw.
  • At pubertal growth, mild deformities can be corrected with orthodontic treatment alone or in conjunction with genioplasty or unilateral mandibular augmentation.


  • Also called as ‘Bird Face Deformity’ due to short mandible.
  • Primarily caused by the arrest of mandibular development.

Clinical Features:

  • Micrognathia.
  • Cleft palate
  • Glossoptosis
  • U shaped cleft palate
  • Deafness
  • Mental retardation
  • Congenital heart defects.


Surgical intervention and conservative orthodontic approaches.


  • Infants born to alcoholic mother exhibit a specific pattern of defects including prenatal growth deficiency, post natal growth deficiency, mental retardation etc.
  • Exposure to high level of alcohol during early fetal development produces Fetal Alcohol Syndrome.


There is no cure of fetal alcohol syndrome. Supportive treatment involves:

  • Using salivary stimulants to increase saliva production and prevent dry mouth.
  • Using anti depressants.
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