Management of craniofacial syndromes and developmental anomalies

1. Management of craniofacial
syndromes and developmental
anomalies
Prepared by: Sinan Al-Hadeed
Third year Orthodontic resident
Supervised by
Dr. Ahmad Al-Tarawneh
Dr. Jumana Tbeishat
Dr. Bashar Al-Momani
Dr. Anwar Al-Rahamneh

2. Definitions
• Syndrome: A group of symptoms which
consistently occur together, or a condition
characterized by a set of associated
symptoms.
• Anomaly: Something that deviates from what
is standard, normal, or expected.

3. • Ibn Sina (980-1037), in The Canon of
Medicine, pioneered the idea of a syndrome
in the diagnosis of specific diseases.
• Richard and goodman classified the
syndromes as:
1. Chromosomal abnormality.
2. Gene abnormality.
3. Environmental Factor.
• Embryologic Classification.
1. Single germ layer involved.
2. All the three germ layer involved.

4. A known cause of malocclusion
• Two-thirds of the population have some
degree of malocclusion, only 5% of those have
a specific known reason of that malocclusion
while the majority are a result of a complex
and poorly understood combination of
inherited and environmental influences.

5. Stages of craniofacial development
1. Germ layer formation and initial organization
of craniofacial structures.
2. Neural tube formation and initial formation
of the oropharynx.
3. Origin, migration, and interactions of cell
population; Neural Crest Cells.
4. Formation of organ systems; Pharyngeal
arches and the primary and secondary
palates.
5. Final differentiation of the facial tissues.

6. What can affect these stages?
• Teratogens
• Radiation
• Faulty genes
• Physical Factors
• Maternal and paternal ages
• Infectious diseases
• Maternal health and nutrition
• Unknown causes

7. TERATOGENS EFFECT
Aminopterin Anencephaly
Aspirin Cleft lip and palate
Cigarette smoke (hypoxia) Cleft lip and palate
Cytomegalovirus Microcephaly, hydrocephaly, microphthalmia
Dilantin Cleft lip and palate
Ethyl alcohol Central midface deficiency; Fetal Alcohol
Syndrome (FAS)
6-Mercaptopurine Cleft palate
13-cis Retinoic acid (Accutane) Similar to craniofacial microsomia and
Treacher Collins syndrome
Rubella virus Microphthalmia, cataracts, deafness
Thalidomide Malformations similar to craniofacial
microsomia, Treacher Collins syndrome
Toxoplasma Microcephaly, hydrocephaly, microphthalmia
X-radiation Microcephaly
Valium Craniofacial microsomia and Treacher Collins
syndrome
Vitamin D excess Premature suture closure

8. Different syndromes and anomalies occur at
different stages of development. Most of
which affect the NCC development, migration,
interaction, or a combination of these
processes.

9. STAGE TIME POSTFERTILIZATION RELATED SYNDROMES
Germ layer formation and
initial organization of C.F
structures
Day 17 Fetal Alcohol Syndrome (FAS)
Neural tube formation Days 18-23 Anencephaly
Origin, migration, and
interactions of cell population
Days 19-28 Craniofacial microsomia
Mandibulofacial dysostosis
Limb abnormalities
Formation of organ systems
Primary Palate
Secondary Palate
Days 28-38
Days 42-55
Cleft lip and/or palate, Facial
Cleft palate
Final differentiation of tissues Day 50-birth Achondroplasia
Synostosis syndromes

10. How to start talking about these
syndromes?

11. I. Craniosynostosis
1. Apert’s syndrome
2. Crouzon’s syndrome
3. Pfeiffer’s syndrome
II. Orofacial clefting syndromes
1. Cleft lip and/or palate
2. Pierre-Robin sequence
III. Branchial arch disorders
1. DiGeorge’s syndrome (22q 11.2 deletion syndrome)
2. Craniofacial microsomia
3. Mandibulofacial dysplasia “Treacher Collins syndrome”
4. Oro-Facial-Digital syndrome
IV. Syndromes affecting bone and/or cartilage
1. Achondroplasia
2. Cleido-cranial dysplasia
V. Others
1. Binder’s syndrome
2. Fetal alcohol syndrome

12. For the ease of memorizing
you can organize these syndromes according to the associated
anomalies

13. • Syndromes associated with a cleft.
• Syndromes associated with midfacial deficiency.
• Syndromes associated with midfacial excess.
• Syndromes associated with mandibular
retrognathia.
• Syndromes associated with mandibular
prognathia.
• Syndromes associated with problems in facial
height.
• Syndromes associated with teeth form or number
anomalies.

14. Adam Oliver Syndrome
Amniotic Band Syndrome
Antley Bixler Syndrome
Apert Syndrome
Asperger’s Syndrome (Autism)
Baller-Gerold Syndrome
Beals/CCA Syndrome
Bell’s Palsy- Seventh Nerve Palsy
Branchial Occulo Facial Syndrome
Carpenter Syndrome
Charge Syndrome
Cleft Lip and Palate
Craniosynostosis

15. Cri du chat syndrome
Crouzon Syndrome
Dandy-Walker Syndrome
DiGeorge Syndrome
Duane Syndrome
Ectodermal Dysplasias
Emanuel Syndrome
Esophageal Atresia and Tracheoesophageal Fistula
Facial Palsy
Fifth Disease
Goldenhar Syndrome
Goodman Syndrome
Hemifacial microsomia

16. Hydrolethalus Syndrome
Jackson-Weiss Syndrome
Kabukli Syndrome
Langer – Geidon Syndrome
Larsen Syndrome
Laryngeal Cleft
Loeys-Dietz Syndrome
Marfan Syndrome
Microdenletion Syndrome
Nager Syndrome
Noonan Syndrome
Opitz G/BBB syndrome
Pallister-Hall Syndrome

17. Parry-Romberg syndrome
Pfeiffer Syndrome
Pierre Robin Syndrome
Saethre – Chotzen Syndrome
Shprintzen Syndrome
Stickler Syndrome
Tracheo-Oesophageal Fistula & Oesophageal Atresia
Treacher Collins Syndome
Turner’s Syndrome
Van der Woude Syndrome
VATER Syndrome
Velo-Cardio-Facial Syndrome (VCFS)
Velpharyngeal Inadequacy
Waardenburg Syndrome

18. Cleft lip and palate and associated
syndromes

20. • We can organize clefting into two broad
categories
– Non-syndromatic cleft lip and/or palate
– Syndromatic cleft lip and/or palate
• Isolated cleft palate is associated with a
syndrome in most cases.

21. Syndromes associated with clefting
disorders
• Apert syndrome
• Oral-Facial-Digital syndrome
• Treacher collins syndrome
• Pierre Robin sequence
• DiGeorge syndrome (22q 11.2 deletion
syndrome)

22. • A solid understanding of the anatomy of the
cleft disorder and the embryologic
background is paramount to the orthodontist
and the craniofacial surgeon.
• Timing at which the cleft happens, the
structures affected, and the factors influencing
such a deformity should be known.

24. Outlines

25. • The embryologic bases for cleft lip and/or palate.
– Anatomy
– Timing
– Affected structures
• Complications of this craniofacial deformity.
• The orthodontist role in the team involved in its management.
– Diagnostic considerations
– Timing of treatment
– Alveolar bone molding
– Naso-alveolar molding
– Protraction Head Gear (Face Mask Therapy)
– Special considerations in treating the developing dentition
• Understanding different surgical approaches to correct the cleft.
– Primary lip repair
– Alveolar bone grafting
– Evaluating the success of alveolar bone graft
– Distraction osteogenisis
– Correcting the associated midfacial deficiency
• Conclusions.

26. • The embryologic bases for cleft lip and/or palate.
– Anatomy
– Timing
– Affected structures

28. • Clefting of lip occurs because of a failure of
fusion between the median and lateral nasal
processes and the maxillary process, which
normally occurs during the sixth week of
development. This fusion creates the area of
primary palate containing the central and
lateral incisors.
• This occurs during the fourth stage of facial
development.
• Closure of the secondary palate follows that of
the primary by nearly two weeks.

29. • 60% of cleft lip patients also have a cleft
palate.
• Bifid uvula indicates a very late-appearing
interference with the fusion of the secondary
palate.
• Failure of fusion between the maxillary
process and the lateral nasal processes
produce an oblique facial cleft.
• Failure of fusion between the Maxillary and
Mandibular processes cause Macrostomia.

30. Complications
• Hypodontia.
• Hyperdontia (supernumerary teeth.)
• Pig/small shaped lateral incisors.
• Short or malformed roots of the teeth adjacent to the cleft area.
• Unusual eruption sequence or impactions and transpositions, due
to retained or early lost primary teeth and presence of
supernumeraries.
• Maxillary deficiency in both the sagital, transverse, and vertical
aspects due to hard and soft tissue loss and scaring.
• Oro-nasal communication.
• Speech, feeding, and breathing problems.
• Psycho-social problems for both the patient and family due to the
appearance.
• Exposure to multiple surgeries and frequent appointments can be
challenging to the family and the patient.

32. • The orthodontist role in the team involved in its
management.
– Diagnostic considerations
– Timing of treatment
– Alveolar bone molding
– Naso-alveolar molding
– Protraction Head Gear (Face Mask Therapy)
– Special considerations in treating the developing dentition

33. Team! You and the surgeon?
• No! The cleft lip and palate team is a big one,
and the same team can be involved in any
craniofacial anomalies.

35. Diagnosis
• Ultrasonography is a noninvasive diagnostic tool that is
common to confirm fetal viability, gestational age, and
examine fetal anatomy and detect any malformations.
• Christ and Meininger reported that the optimal
imaging of the fetal face is NOT reliable with
transabdominal ultrasound until gestational week 15.
• Robinson and coworkers reported improved detection
of cleft lip at or after 20 weeks.
• Transvaginal sonography is reported to yield high
specificity and sensitivity in the diagnosis even in
earlier weeks of gestation.

37. Advantages of prenatal cleft diagnosis
1. Psychological preparation of the parents and
caregivers.
2. Education of parents on the management of
the cleft.
3. Preparation for neonatal care and feeding.
4. Further investigation for other structural or
chromosomal abnormalities.
5. Possibility for fetal surgery!

38. Disadvantages
1. Emotional disturbance and high maternal
anxiety and dysfunction after cleft diagnosis.
2. Some parents may choose to terminate the
pregnancy even in the absence of other
malformations.
Remember our culture and religion!

39. Timing of treatment

40. • Timing and sequencing of orthodontic care
maybe divided into four distinct
developmental periods. These periods are
defined by age and dental development.
• This provides a framework for a defined
treatment objectives.
– Neonate and Infant (Birth to 2 years of age)
– Primary Dentition Stage
– Mixed Dentition Stage
– Permanent Dentition Stage

41. Neonate and Infant Stage (Birth to 2 years of age)
• Presurgical or neonatal maxillary orthopedics
is initiated during the first or second week
following birth. In 1993, with the introduction
of Naso-Alveolar Molding, developed by
Grayson, it was possible to mold the alveolar
ridges and reducing the size of the cleft to
about 1-2 mm. the use of a nasal stent and
taping lengthens the columella and realigns
the lower lateral alar cartilages.

42. Objectives of this stage
It’s all about the surgeon!!

43. • Long term studies on NAM therapy indicate
– better lip and nasal form.
– reduced oronasal fistula and labial deformities.
– 60 % reduction in the need for secondary alveolar
bone grafting utilizing GingivoPeriosteoPlasty (GPP)
surgery.
– Eliminate surgical columella reconstruction and the
resultant scar tissue in bilateral cleft lip and palate
• No effect on growth of midface in sagittal and
vertical plane has been recorded up to the age of
18 years.

44. Fabricating a NAM appliance

48. Clinical Notes

49. • The impression must adequately cover the anatomy of the
upper gum pads and palatal shelves and include the
vestibular folds.
• The plate must be 2 – 3 mm in thickness to provide
structural integrity and to permit adjustments during the
process of molding
• A retention button is fabricated and positioned anteriorly at
an angle of approximately 40 degrees to the plate.
• The nasal stent construction is delayed until the cleft gap
between the alveolar segments is reduced to about 5-6 mm
in width.
• The use of skin barrier tapes on the cheeks like DuoDerm or
Tegaderm is advocated to reduce irritation on the cheeks.
• The elastics (inner diameter 0.25 inch wall thickness-heavy)
should be stretched approximately two times their resting
diameter for proper activation force of about 100 grams.
• Parents are instructed to keep the plate in the mouth full
time and to remove it for daily cleaning.

50. • Adjustments are made by selectively removing the hard
acrylic and adding soft denture base material to the molding
plate.
• The rationale for delaying addition of the nasal stent is that as
the alveolar gap is reduced, the base of the nose and the lip
segment alignment is also improved. Once the alar base on
the cleft side shows less stretch and tension, it can be
elevated into symmetrical and convex form with the nasal
stent and not be subjected to additional stretch.
• Achievement of presurgical clinical objectives in patients with
bilateral cleft lip and palate tends to take 1-2 additional
months. to. The duration of molding therapy could also vary
depending on the severity of the initial cleft deformity.

51. • Definitive lip repair is usually achieved by the
time the infant is 3 to 6 months old, and the
repair of the palate is delayed until 12 months
to 2 years of age.

52. • In 2011, Uzel and Alparslan published a
systematic review of the long-term effects of
presurgical infant orthopedics. This review did
NOT show a positive effect on the treatment
outcomes as a whole until the age of 6,
including motherhood satisfaction, feeding,
speech, facial growth, maxillary arch
dimension, occlusion, and naso-labial
appearance.

53. Primary Dentition Stage
(2-6 years of age)
• In this stage an orthodontist should evaluate the
growth of the cleft patient annually and intervene
when appropriate in the cases of crossbites,
whether anterior or posterior. As these patients
commonly suffer from restricted maxilla in the
transversly, a watchfull eye should evaluate the
maxillary development in the sagital and vertical
planes. The use of W arch or a quad-helix
appliance can be used to minimize displacements
and the risk of skeletal asymmetry.

54. Mixed Dentition Stage
(7-12 years of age)

55. The patient is more than just Teeth
• In a study by Ward and coworkers, it was
found that the presence of an orofacial cleft
and other craniofacial anomalies decreases
OHRQoL in children and adolescents. This
causes social withdrawal, social anxiety, and
self-consciousness.
• This can limit the patient participation in
treatment decisions and adherence to
treatment protocols.

56. The most important event in this stage is
Alveolar Bone Grafting

57. History of alveolar bone graft

58. • The first successful alveolar bone graft was described over a
hundred years ago in 1914 by Drachter.
• By the 1960’s primary alveolar bone grafting, grafting that
takes place at the time of the primary lip repair, became a
“routine procedure in nearly all cleft palate centers in the
world.”
• By the 1970’s, many centers had abandoned primary bone
grafting amid growing evidence showing maxillary hypoplasia
in patients who received primary alveolar bone grafting.
• In 1972 Boyne and Sands first advocated secondary bone
grafting.

59. • It was hoped that primary alveolar bone
grafting would not only eliminate the bony
deficiency, stabilize the maxillary arch, create
bony support for the dentition, and improve
nasal esthetics, but some also postulated that
primary grafting would stimulate future
maxillary growth which proved to be wrong!

60. Secondary bone grafting
• Secondary alveolar bone grafting is performed at any time
after the primary lip and palate repair and can be divided into
three broad groups based on timing.
– Early secondary alveolar bone grafting is generally performed in the
primary dentition.
– Intermediate secondary alveolar bone grafting is generally performed
during the mixed dentition.
– Late secondary alveolar bone grafting occurs in the permanent
dentition.
• Secondary alveolar bone grafting was meant to provide the
benefits of alveolar bone grafting that prosthetic could not
without the maxillary hypoplasia that was often seen with
primary alveolar bone grafting.

61. • Intermediate secondary bone grafting has
become the most commonly accepted time
period to perform alveolar bone grafting.
• The exact timing should be patient specific. In
reality, it is the development of the dentition
that drives the decision and not chronological
age.
• A survey of ACPA teams in 2005 found out
that 78% of cleft lip/palate centers reported
performing intermediate alveolar bone grafts
between the age of 6-9.

62. But Why The Intermediate?

64. • The goal should be to perform the graft early enough to allow
the erupting permanent dentition to have good alveolar
support, but wait as long as possible to limit the possible
negative side effects on the growth of the maxilla.
• Several studies have shown that the success of alveolar bone
grafting is increased if it is performed prior to the eruption of
the maxillary canine on the clefted side.
• If alveolar bone grafting is postponed until after the eruption
of the entire permanent dentition the position of the erupted
canine often decreases surgical access and is difficult to move
orthodontically without exposing the root surface into the
alveolar cleft.

65. • Most centers advocate intermediate
secondary alveolar bone grafting when the
unerupted canine has 1/2 to 2/3rds of its root
developed.
• when a viable lateral incisor is present
adjacent to the alveolar cleft, the root
development of the unerupted lateral incisor
should be used as a gauge to determine the
timing of the alveolar bone graft and not the
canine.

66. Can the Early Alveolar Bone Grafting
Be Any Good?
• Some centers also advocate alveolar bone grafting prior to the
eruption of the central incisor nearest the cleft site.
• These centers have reported better periodontal support for
the central incisor and a larger volume of successfully grafted
alveolar bone when compared to intermediate secondary
alveolar bone grafting.
• Some studies have shown some degree of maxillary
hypoplasia, while others have shown no growth restriction
with early secondary alveolar bone grafting when compared
to intermediate secondary alveolar bone grafting.

67. • Two factors govern the decision for early
versus intermediate grafting;
– The first is the eruption path of the central incisor.
If it is anticipated that the central incisor will erupt
ectopically towards the cleft, early grafting may be
indicated.
– The second relevant consideration when
comparing early and intermediate secondary
alveolar bone grafting is the ability to comply with
pregraft orthodontics.

68. Special considerations in treating the developing dentition

69. • Pre-graft orthodontics.
– Maxillary arch Expansion.
– Aligning the teeth adjacent to the cleft area.
• Post-operative Splints.
• Evaluating the results.

70. Review of the literature
• In 2000 a retrospective study examined 64 canines that
spontaneously erupted after secondary alveolar bone
grafting. Of those 64 canines, 44 were in patients who
received pregraft orthodontics and 20 were in patients that
did not receive pregraft orthodontics. 68% of the canines
examined in the patients who had pregraft orthodontics
achieved normal interdental bone levels while 4% of the
canines achieved no bony bridge, a complete failure of the
graft. Comparatively, 65% of the patients who did not have
pregraft orthodontics achieved normal interdental bone levels
while there were zero complete failures.

71. • In 2013 a 10 year follow up examined the
outcomes of secondary alveolar bone grafting
and found the lowest success in the group
that had pre-grafting orthodontics.
• A recent multicenter investigation examining
the outcomes of secondary alveolar bone
grafting suggested the effect of pregraft
orthodontics on alveolar bone graft outcomes
appears to be equivocal.

72. • At face value these studies appear to suggest
there are no benefits to pregraft orthodontics
prior to alveolar bone grafting and that
pregraft orthodontics may even reduce the
likelihood of a successful graft.

73. Is it the cleft size that affect the
success of the surgery?
• Long et al. investigated this variable and concluded
that the width of the cleft prior to secondary alveolar
bone grafting “seemed to have little bearing” on the
success of the alveolar graft.
• A retrospective study in 2000 investigated the factors
that lead to a successful alveolar bone graft found
that successful bone grafting seems to not depend
on the initial size of the cleft, but instead depended
on the presurgical amount of bone supporting the
teeth adjacent to the cleft.

74. Aligning the teeth adjacent to the cleft area
• If brackets are placed on the teeth adjacent to the cleft great
caution must be exercised to avoid creating root exposures. To
avoid this from occurring it is common to place the bracket on
the crown of the tooth adjacent to the cleft in an atypical
location to avoid any mesial or distal tipping of the tooth
roots.
• It’s not a primary goal of pre-surgical orthodontics to correct
the transverse discrepancy and cross-bites but to normalize
the maxillary arch form, which is often asymmetrical. Another
goal is to create or improve surgical access.
• Although expansion can be performed after alveolar bone
grafting to correct any residual constriction, it can be more
challenging and in particular more difficult to correct any
skeletal asymmetries.

75. Post-operative Splints.
• These intra-oral splints usually are horseshoe shaped
and cover the maxillary occlusal surfaces. Appropriate
relief is also provided in the area of the graft.
• Their construction can range from simple
thermoplastic retainers to bonded acrylic splints to
acrylic splints retained with various retention clasps.
• The proposed benefits of these splints include:
– Retention of the pregraft arch form change.
– Protection of the surgical site.
– Stabilization of the premaxilla in the case of bone grafts in
patients with complete bilateral alveolar clefts.

76. Evaluating the success of the graft
surgery
• Bergland scale.
• Kindelan scale.
• Chelsea scale.
• The SWAG (standardized way to assess grafts)
scale.
• The GAND (gap, arch, nasal, and dental
parameters) classification is a newly
developed method and utilizes CBCT
technology.

77. References
1. Elsevier, Dorland's Illustrated Medical Dictionary, Elsevier.
2. https://en.oxforddictionaries.com/definition/anomaly.
3. Contemporary Orthodontics, 5th edition, W.R Proffit. 2012 Chapter 5, figure 5-1.
4. Bristol postgraduate notes
5. https://vimeo.com/41162777
6. Orthodontics, current principles and techniques, sixth edition, Graber, 2017.
Chapter 14. Page 368. Figure 14-2
7. John O. Wirthlin, The orthodontist′s role in the management of patients with
cleft lip and palate undergoing alveolar bone grafting, Seminars in Orthodontics,
September 2017.
8. Pradip R. Shetye and Barry H. Grayson, NasoAlveolar Molding Treatment Protocol
in Patients With Cleft Lip and Palate, Seminars in Orthodontics, September 2017.
9. Laura Mancini, Travis L. Gibson, Barry H. Grayson and Pradip R. Shetye,
Orthodontic Treatment in Adolescents with Cleft Lip and Palate, Seminars in
Orthodontics, September 2017.
10. Role of the Craniofacial Orthodontist on the Craniofacial and Cleft Lip and Palate
Team Pedro E. Santiago, and Barry H. Grayson. (Semin Orthod 2009;15:225-243.)
© 2009 Elsevier Inc.

78. Thank You