Craniofacial anomalies can affect the growth of the head and facial bones. They may be present at birth (congenital) and range from mild to severe, sometimes requiring surgery. Factors contributing to anomalies include genetic combinations from parents, environmental exposures during pregnancy, and folic acid deficiency. Common anomalies include cleft lip and palate, abnormal skull bone fusion (craniosynostosis), and hemifacial microsomia. Jaw abnormalities like agnathia (absence of lower jaw), micrognathia (small jaw), and macrognathia (large jaw) can also occur. Genetics play an important role in craniofacial anomalies, with traits inherited through

1. Developmental
disturbances of oral
and paraoral structures
DR.D.ANGELIN

2. Craniofacial anomalies
• Diverse group of deformities in the growth of the head and facial
bones
• Anomaly means irregularity or defferent from normal
• These abnormalities are congenital(present at birth)- some are
mild and others severe requiring surgery

3. Factors contributing to anomalies
• Combination of genes- child receives a particular combination
of genes from one or both parents or change in genes at the
time of conception
• Environmental – prenatal exposure to drugs or chemicals
• Folic acid deficiency- deficiency during pregnancy may have a
higher risk of having a baby with congenital anomalies including
cleft lip and cleft palate

4. Common craniofacial anomalies
• Cleft lip and palate
• Craniosynostosis
• Hemifacial microsomia- Goldenhar syndrome,branchial arch
syndrome,facio-auriculovertebral syndrome
• Vascular malformation- lymphangiomas,arteriovenous malformations
and vascular gigantism
• Hemangioma-birthmark-portwine stain,strawberry hemangioma
,salmon patch
• Deformational plagiocephaly-asymmetrical shape of head- oblique
head

5. Global epidemiology
• Ocurrence of cleft lip with or without cleft plate is 1 in every 800
newborn babies
• A child is born with a cleft somewhere in the world every two
and a half minutes

6. genetics
• Genotype is gnetic constitution of an individual and may refer to
a specified gene loci or to all loci in general
• Phenotype is the final product of a combination of genetic and
environmental influences
• Proportion of the phenotype variance attributable to the
genotype is referred to as heritability
• Genetic differences caused by segregation of many genes is
polygenic variation and the genes concerned are polygenes

7. Mode of inheritance
• All chromosomes exist in pairs,so our body contain two copies
of each gene
• Different forms of genes at the same locus or position of
chromosome are calles alleles
• If both copies are identical they are homozygous
• If they differ they are heterozygous

8. Modes of inheritance
• When two gametes join at fertilization the new individual
produced has paired genes one from the father and one from
the mother
• If a trait or disease manifests itself when the affected person
carries only one copy of the gene responsible along with one
normal allele the mode of inheritance is dominant
• If two copies of the defective gene is required for expression of
the trait the mode of inheritance is recessive

9. Modes of inheritance
• X linked recessive- females are carriers
• Multifactorial inheritance – trait is determined by a interaction of
a number of genes at different loci each with small but additive
effect together with environmental factors
• Molecular genetic in dental development- homeobox genes like
Msx-1 and Msx-2 appear to be involved in epithielial
mesenchymal interactions

10. Developmental disturbances of jaws
• Agnathia(otocephaly,holoproscncephaly agnathia)
• Micrognathia
• Macrognathia
• Facial hemihypertrophy(hyperplasia)
• Facial hemiatrophy(Parry Romberg syndrome,progressive facial
hemiatrophy)

11. Agnathia (otocephaly,holoprosencephaly agnathia)
• Hypoplasia or absence of the mandible with abnormally positioned
ears
• Autosomal recessive mode of inheritance
• Only a portion of one jaw is missing in most cases
• In maxilla,one maxillary process or even premaxilla
• In mandible,entire mandible on one side or the condyle or ramus or
bilateral agnesis of condyle
• Failure of migration of neural crest mesenchyme into the
maxillary prominence during the fourth to fifth week of
gestation

12. Micrognathia
• Means a small jaw
• Either maxilla or mandible is affected
• Either a absolute small size or jaw or a abnormal relation of one
jaw to another or to the skull
• Congenital or acquired

13. Micrognathia- congenital type
• Etiology unknown
• Associated with other abnormalities like congenital heart disease
and pierre robin syndrome
• In maxilla deficiency in the premaxillary area and patients have the
middle third of face retracted
• Micrognanthia –predisposing factor in mouth breathing
• Mandibular micrognathia- severe retrution of chin clinically but in
normal measurements the mandible is found within limits
• Due to posterior positioning of jaw

14. Micrognathia -acquired
• Postnatal origin
• Due to disturbance in the area of the temeperomandibular joint
• Ankylosis of the joint,caused by trauma or infection of the
mastoid of the middle ear or of the joint itself

15. Macrognathia
• Condition of abnormally large jaws
• Increase in size of both jaws is proportional to a general
increase in size of the entire skeleton eg: pituitary gigantism
• Also associated with certain condition-pagets disease of
bone,acromegaly,leontiasis ossea

16. Macrognathia
• In many cases prognathism is due to disparity in size of maxilla
in relation to mandible
• Or mandible is measurably larger than normal
• Prognathic patients tend to have a long rami which form a less
steep angle with the body of the mandible
• Length of ramus may be associated with growth of condyle-
excessive condylar growth

17. Macrognathia
Factors favouring mandibular prognathism
• Increased height of ramus
• Increased mandibular body length
• Increased gonial angle
• Anterior positioning of glenoid fossa
• Decreased maxillary length
• Posterior positioning of the maxilla in relation to cranium
• Prominent chin button
• varying soft tissue contours

18. Facial hemihypertrophy