This document summarizes several craniofacial syndromes and anomalies including hemifacial microsomia, Goldenhar syndrome, Treacher Collins syndrome, and Parry-Romberg syndrome. It describes the embryological development of the head and face, classifications of craniofacial anomalies, clinical features and management of specific syndromes.

1. DEVELOPMENTAL ANOMALIES:
CRANIOFACIAL SYNDROMES
ADITI RAJVANSHI
IIIyr PG

2. EMBRYOLOGY
• Development of head and facial region is derived from-
1. Paraxial and lateral plate mesoderm
2. Neural crest cells
3. Thickened region of ectoderm

3. PHARYNGEAL ARCHES

5. FACE DEVELOPMENT

6. Craniofacial
dysmorphology
malformations
deformations
disruptions

7. • Malformations occur during the first 8 weeks of pregnancy during embryogenesis &
result from genetic, environmental causes or a combination of the two.
• Disruptions result from destructive processes that occur after organogenesis to a
morphogenetically normal tissue or organ & are thought to be primarily environmental
in origin.
• Deformations occur after embryogenesis and result from nondisruptive mechanical
forces causing abnormal formations or distortions of morphogenetically normal body
parts & caused by direct local uterine or postnatal positional factors

8. Hemifacial Microsomia
• II most common craniofacial deformity after cleft lip and palate.
• HFM is a common term used to describe a complex spectrum of
congenital anomalies that primarily involves the skeletal and soft
tissue components derived from 1st and 2nd branchial arches.

9. • HFM – first used by Gorlin & Pindborg in 1964
• Also known as –
1. first & second branchial arch deformity
2. Oculoauriculovertebral dysplasia
3. Otomandibular dysostosis
4. Lateral facial dysplasia
5. Unilateral craniofacial microsomia
• Goldenhar syndrome is considered as a variant of HFM – characterized by
additional anomalies of ribs, vertebrae and epibulbar dermoids

10. PATHOGENESIS
• Chromosomal anomalies – deletion 5q, trisomy 18,
duplication 7q
• Teratogenic agents – thalidomide, primidone & retinoic acid
• Diabetic mothers

11. Theories
1. VASCULAR SYSTEM INVOLVEMENT- POSWILLO 1973
Stapedial artery hematoma
2. NEUROECTODERMAL CELL MIGRATION – JOHNSTON & BRONSKY
Alteration in neural crest migration and distribution

12. CLINICAL FEATURES
• SOFT TISSUE ABNORMALITIES:
• Include 1st & 2nd arch structures – ear, facial nerve, facial muscles,
subcutaneous tissues

13. 1. Skin tags –
• vestigial rests of epithelium
• lie along a line from tragus to commissure of lips
2. Macrostomia –
• noted in 61% of HFM patients
• results from failure of fusion of maxillary & mandibular processes,
producing a cleft of skin and underlying orbicularis oris.
3. Cranial nerve abnormalities –
• Mainly involves facial nerve
• 25% of HFM patients
• Marginal mandibular nerve > frontal branch

14. 4. Ear deformities –
• Muerman classified external ear deformities & modified by Marx –
Grade I – mild hypoplasia with obvious malformations, all structures
present
Grade II – atresia of EAC
Grade III – absent auricle, lobular remnant is anteriorly & inferiorly
displaced
• Conductive hearing loss
• Malformed or absent middle ossicles
5. Muscle abnormalities –
• Deficient temporalis & pterygomasseteric muscle groups

15. 6. Microphthalmia
7. Coloboma
8. Torticolis
9. Parotid hypoplasia or agenesis
10. Soft palate deviation

16. Skeletal abnormalities
• Short, narrow, retrusive mandible with asymmetric growth
• Maxillary & zygomatic hypoplasia
• TMJ hypoplasia or absence
• Plagiocephaly
• Temporal bone deformities

17. CLASSIFICATION
A. PRUZANSKY – degree on mandibular & TMJ deformity
• Type – I miniature mandible and TMJ, all structure present but
hypoplastic
• Type – II small abnormally shaped ramus and underdeveloped
displaced TMJ
• Type – III absence of ramus & glenoid fossa

18. B. DAVID ET AL. – SAT classification
S – skeletal deformity A – auricular deformity T – soft tissue
S1 – small mandible, normal shape A0 – normal ear T1 – minimal contour
defect with no cranial
nerve involvement
S2 – condyle, ramus, glenoid fossa
identifiable but distorted, abnormal
mandibular shape and size
A1 – small malformed auricle,
retaining characteristic features
T2 – moderate defect
S3 – severely malformed mandible from
poor to complete agenesis of mandible
A2 – rudimentary auricle with a
hook at cranial end
T3 – major defect with
facial scoliosis, severe
hypoplasia of cranial
nerves, parotid, muscles of
mastication, eye
involvement, clefts of face
or lips
S4 – s3 mandible with gross posterior
recession of lateral & inferior orbital rims
A3 – malformed auricle with
rest of pinna absent
S5 – s4 defects + orbital dystopia+
asymmetric neurocranium + flat
temporal fossa

19. C. KABAN – MULLIKEN classification –
• Type – I mandibular ramus & TMJ present,
but hypoplastic
• Type – IIa glenoid fossa in acceptable
functional unit as compared to opposite TMJ
• Type – IIb abnormal form & location of
TMJ(being medial & anterior)
• Type – III ramus, TMJ & glenoid fossa are
absent

20. OMENS classification
O - ORBIT M - MANDIBLE E - EAR N - NERVE S – SOFT TISSUE
O0 – normal
orbit in position
& location
M0 – normal mandible E0 – normal ear N0 – no facial nerve
involvement
S0 – no obvious
deficiency
O1 – abnormal
orbital size
M1 – small mandible, glenoid
fossa, ramus
E1 – mild hypoplasia
with all structures
present
N1 – upper component
(temporal & zygomatic
nerve) involved
S1 – minimal
deficiency
O2 – abnormal
orbital position
M2a – glenoid fossa is
anatomically acceptable as
compared to opposite side
M2b – TMJ is inferiorly,
medial, anteriorly displaced
with hypoplastic condyle
E2 – absent EAC,
hypoplasia of concha
N2 – lower component
(buccal, marginal
mandibular, cervical
nerves) involved
S2 – moderate
deficiency
between S1 & S2
O3 – abnormal
orbital size &
location
M3 – complete absence of
ramus, glenoid fossa & TMJ
E3 – malpositioned
lobule, absent auricle
N3 – all branches
involved
S3 – severe
hypoplasia

21. GOLDENHAR SYNDROME
• Goldenhar syndrome can be considered part of the oculoauriculovertebral (OAVS)
spectrum.
• It is the “more severe” of two manifestations of OAVS, the other being HFM.
• The major difference between the two is that –
Hemifacial microsomia is mostly characterized by abnormalities of the jaw,
while
Goldenhar syndrome affects distal structures like the eyes and spine in addition to the
mandible and maxilla.

22. • Gorlin and associates in 1963 - introduced the term Oculoauriculovertebral
(OAV) dysplasia to describe patients with-
• unilateral microtia,
• macrostomia,
• mandibular hypoplasia,
• vertebral anomalies
• epibulbar dermoids
• Feingold and Baum listed criteria of which at least two are required for the
diagnosis of Goldenhar syndrome.
• These included eye abnormalities such as lipoma, lipodermoid, epibulbar
dermoid, in association with any of the following: ear, mandible or vertebral
anomalies

23. Clinical Characteristics
• Goldenhar syndrome primarily involves malformations of the cheekbones, jaw,
mouth, ears, eyes, and vertebrae.
• craniofacial abnormalities - malar, maxillary, mandibular and temporal
hypoplasia,
• macrostomia, underdeveloped facial muscles, cleft lip and/or cleft palate,
abnormalities of the teeth,
• epibulbar dermoids and lipodermoids, coloboma, microopthalmia, strabismus,

24. • Ear abnormalities –
• microtia or anotia, atresia of the ear canals, preauricular tags, and
middle/inner ear abnormalities.
• Hearing loss may be conductive or sensorineural
• Occasionally, there may be skeletal, neurological, cardiac, pulmonary, renal,
and/or gastrointestinal issues.
• The vertebrae may be absent, incompletely developed, or fused

25. Treatment of a growing child
• Mandibular growth has been explained based on 2 theories –
1. Functional matrix – development occurs in response to functional
forces imposed by functional muscles.
2. Condylar growth centre – growth is due to activity of growth centre
located in condyle
Theoretical basis: to provide a more functional matrix for completion
of craniofacial skeletal growth.

26. • GOALS:
1. Correction of malformed & underdeveloped mandible & soft tissues.
2. Creating an articulation between mandible and temporal bone
3. Correcting secondary maxillary deformities
4. Establishing a functional occlusion & esthetics
5. Correction of ear deformity
• External hearing assistance for the hearing loss
• Reconstruction of external auricle

27. Management
SKELETAL DECIDUOUS MIXED PERMANENT
Type I Skin tag removal Functional appliance
+
Mandibular elongation –
osteotomy/distraction
+
Creation of posterior open bite
Surgical orthodontics-
bimaxillary surgery
Type IIa Skin tag removal Functional appliance
+
Mandibular distraction
Surgical orthodontics-
bimaxillary surgery
Type IIb Skin tag removal Reconstruction of condyle, ramus & glenoid
fossa
+
Creation of posterior open bite
Surgical orthodontics-
bimaxillary surgery
+
Reconstruction of TMJ
Type III Skin tag removal Reconstruction of condyle, ramus & glenoid
fossa
+
Creation of posterior open bite
Surgical orthodontics-
bimaxillary surgery
+
Reconstruction of TMJ

28. Sequential phases
1. Presurgical jaw orthopedics
2. Mandibular surgery including joint reconstruction
3. Immediate postsurgical functional therapy
4. Maxillary correction if necessary
5. Final orthodontics
6. Soft tissue augmentation

29. TREACHER COLLINS SYNDROME
• also known as mandibulofacial dysostosis – BERRY in 1889.
• the deformity is known as the Franceschetti-Zwahlen-Klein
syndrome
• autosomal dominant condition

30. • syndrome is variably expressed-
• the incomplete form should be designated as Treacher Collins syndrome
• the complete form as Franceschetti syndrome
• Inheritance, Genetic Markers
• 1 in 25,000 to 1 in 50,000 live births
• autosomal dominant, M = F
• Gene mutation of TCOF 1 mapped to chromosome 5, and later was refined
to 5q31.3  q33.3

31. Clinical features
• Abnormal neurocranium, shorter in all dimensions
• Hypoplasia of malar bones, mandible
• Longer anterior and shorter posterior facial height
• Malformation of external ear & middle ear
• Increased convexity of facial profile
A key distinguishing feature of this entity is that it is bilateral and symmetrical

32. • Orbit - with base located superomedially and
axis inferolaterally
• Hypoplastic orbital floor with cleft inferolaterally
• Decreased lateral wall length
• Antimongoloid scant of palpebral fissure
• Coloboma of lower eyelids and lateral canthi
• Partial absence of eyelid cilia (lower eyelid)
• Inferolateral orbital dystopia

33. • Anteriorly positioned, overprojected maxilla
• Deficient in width & posterior height
• High and narrow arched palate
• Palatal plane rotated clockwise
• Micrognathic mandible – reduced ramus & body length
• Condyle is hypoplastic or missing
• Markedly obtuse gonial angle with concave antegonial notch
• Retrusive chin

34. • In newborns with the syndrome, priority is airway management.
• Depending on the severity of the anomalies -
• special infant positioning, an extended hospital stay, pulse oximetry monitoring.
• Surgical management – tongue – lip adhesion, custom made oral appliance,
tracheostomy, urgent mandible advancement

35. • Surgery is directed at three main areas:
1. the eyes, with antimongoloid slant of the palpebral fissures and
lower lid colobomas
2. the malar hypoplasia
3. the mandibular hypoplasia with the marked retrognathia and
anterior open bite

36. • The eyelid coloboma must be addressed to protect
the cornea.
• Tessier addresses the problem with a Z-plasty
• Jackson uses a lid switch procedure.
• Adv:
• vascularized tissue
• Excellent color match
• Vertical repositioning of lateral canthus correcting the
antemongoloid slant

37. • Reconstruction of the hypoplastic zygoma –
• split-thickness and full-thickness cranial
bone grafts
• vascularized calvarial grafts based on a
temporalis muscle pedicle
• rib grafts
• use of dermal fat grafts to help correct the
soft-tissue deficiency and effectively
camouflage the skeletal deficiency

38. • Correction of ear deformity
• External hearing assistance for the hearing loss
• Reconstruction of external auricle
• Maxilla and mandible correction
• I and IIa –
• Conventional orthognathic procedure – BSSO and LeFort I osteotomies
• Osseous genioplasty
• IIb –
• Reconstruction of missing condyle
• III –
• Reconstruction of TMJ

39. Indications for First-stage Mandibular Reconstruction in the Newborn
• Hypoplasia of the mandible is constant but variable component of the
syndrome
• Individuals with TCS are known to be at risk for sleep apnea (>25%).
• For these patients, sagittal advancement and DO to advance the mandible
bringing tongue forward and opening the airway have been used for2
decades.
• DO – initial improvement in airway but it did not continue with chronological
age. There was reemergence of the symptoms that required management.
• Sagittal advancement: detrimental effects - injury to developing teeth, high
incidence of TMJ ankylosis, perioperative cardiac and respiratory
complications have been reported.

40. Indications for First-stage Mandibular Reconstruction during mixed
dentition
• If the reconstruction for type IIb condylar malformation is felt to be indicated, it
is carried out – after the child is 7 – 10 years old
after eruption of permanent mandibular first molars

41. • generally not preferred –
1. to avoid injury to the developing permanent dentition and the inferior
alveolar nerves
2. to avoid soft tissue (cutaneous) scarring
3. to limit perioperative airway and infection complications
4. to limit the patient’s negative psychosocial memories
5. to avoid any iatrogenic deformity of the TMJs

42. Parry–Romberg syndrome
• Parry in 1825 - first description of hemifacial atrophy
• Bergson, 1837 called it prosopodysmorphia
• Romberg, 1846 called it – trophoneurosis described clinical findings –
ROMBERG’S disease.
• Eulenberg, 1871 applied the term progressive facial hemiatrophy

43. • Etiology is unknown:
• Infection hypothesis
• Cervical sympathetic loss theory
• Trigeminal peripheral neuritis
• Sclerodermal basis
• Chronic neurovasculitis
• characterized by a slow and progressive facial atrophy of subcutaneous fat
that can be followed by the wasting of associated skin, cartilage, connective
tissue, muscle, and bone.
Clinical and ultrastructural studies of Romberg’s Hemifacial atrophy. Plast Reconstr Surg. 1990;85:669-674

44. • It is not a congenital disorder, with the typical onset being in the first
or second decade of life.
• The hallmark of the disorder is a slowly progressive course, with an
“active phase” of disease characterized by involution, or “wasting
away” of the skin, subcutaneous tissue, and muscle.
• This “active phase” lasts from 2 to 10 years. The subcutaneous tissue
is the most severely involved.

45. • In early onset cases – skeletal involvement often involves mandible &
midface.
• The maxilla may also manifest both vertical and sagittal undergrowth.
• The mandible may exhibit significant vertical undergrowth of the
ramus and a deficiency in posterior facial height.

46. Clinical manifestations
• usually during the first decade
• the overlying skin of the affected side becoming darkly pigmented
• Hair involvement precedes that of skin, with the affected side of the scalp
characterized by focal areas of complete alopecia, loss of eyelashes, and the
median portion of eyebrows.
• Some patients have a scar-like demarcation on the forehead near the midline
known as linea scleroderma or en coup de sabre (strike of the sword).

47. • Oral manifestations
• Hemiatrophy of the tongue, upper lip
• Delayed eruption, root dilaceration, root hypoplasia
• Malocclusion
• Ophthalmologic manifestations
• most common manifestation is enophthalmos due to loss of periorbital fat
• atrophy of the eyelid
• glaucoma
• retinal pigmentations

48. • Neurologic manifestations
• Epileptic seizures are the most common
• cerebellar and cerebral hemiatrophy calcifications, and vascular
abnormalities

49. Treatment
• For milder asymmetry and atrophy of the skin and subcutaneous tissue, injection of
collagen and hyaluronic acid derivatives or fat injection may provide some short-
term benefit.
• For small areas of asymmetry, dermal grafts, fat grafts, or dermal-fascial-fat grafts
are considered.
• Microvascular free tissue transfer
• Corrective osteotomies with vertical positioning of the orbit.
• Orthognathic surgery to correct maxillary and mandibular deficiencies and
occlusion.

50. PIERRE ROBIN SYNDROME
• In 1923 Pierre Robin described a series of infants with micro- or
retrognathia, respiratory distress, and glossoptosis, with or without cleft
palate.
• Physical findings became known as Pierre Robin syndrome until 1976 when
Cohen introduced the term anomalad, defined as ‘‘a malformation together
with its subsequent derived structural changes’’

51. • Potential causes that has been proposed –
• Reduced levels of amniotic fluid may not support the head in utero
• Head flexion allows the chin to fall against the chest, impeding
mandibular growth
• Neuromuscular or connective tissue disorders

52. • Most accepted : the mechanical theory
• Initial mandibular hypoplasia (7th – 11th IU wk)  keeps tongue high
in oral cavity  cleft palate by preventing the closure of palatal
shelves

53. MANAGEMENT
• IN INFANTS: mainly focused on breathing and feeding
• CONSERVATIVE MANAGEMENT:
• For respiratory symptoms –
• side lying position or prone position
• Oral airway placement
• Laryngeal mask airway in severe cases
• For feeding difficulties –
• upright feeding techniques
• Modification of nipple for bottle feeding
• Naso- or oro- gastric tube or gastrotomy

54. • SURGICAL MANAGEMENT:
• Depends on the severity of condition
• Glossopexy
• Mandibular lengthening

55. FACIAL CLEFTS

60. In circumoral fashion, these clefts include -
• the median cleft lip (Tessier cleft no. 0),
• Paramedian cleft (unilateral and bilateral cleft lip Tessier cleft nos. 1, 2)
• oblique facial cleft (Tessier cleft nos. 3, 4 and 5),
• lateral facial cleft (Tessier cleft no. 7),
• median mandibular cleft (Tessier cleft no. 30).

61. MEDIAN CLEFT LIP
• Relatively rare
• Due to failure of fusion of 2 medial
nasal processes to meet in midline
• Correspond to the Tessier cleft no. 0

62. complete median cleft defects are syndromic
and present as two separate entities:
1. the median cleft lip with hypotelorism
(holoprosencephaly)
2. median cleft lip with hypertelorism
(median cleft face syndrome).

63. PARAMEDIAN CLEFTS
• Tessier no. 1
• Clefting of alar dome
• Shortened and broadened columella and nasal tip
• Extension of cleft over the dorsum
• Vertical dystopia with severe telecanthus
• Complete unilateral hard and soft palate cleft with hypoplastic maxilla
• Distortion of nasal skeleton with flattening of dorsum
• cranium has mild plagiocephaly

64. • Tessier No. 2 –
• Nasal septum intact but deviated to opposite side
• cranium is brachycephalic
• True broad cleft of nostril medial to tail of alar cartilage
• Widened nasal root
• Lacrimal system remain intact

65. OBLIQUE FACIAL CLEFTS
• Synonyms - Meloschisis, vertical facial clefting, orbitofacial clefting
• represents a group of lateral midfacial dysplasias that consist of distinct
malformations involving differing points of origin from the lip and superior
extensions into the orbit.
• Correspond to the Tessier cleft nos. 3, 4, and 5
• All known cases are sporadic, with no syndromic association or sex
predilection
• Rare: 0.25% among all facial clefts

66. • cleft no. 3
• also known as a naso-ocular or nasomaxillary cleft
• most medial variety
• extends from the philtrum of the lip to the medial
canthus of the eye, with foreshortening of distance
• occurs at the lateral incisor/canine area of the alveolus, extending through the
frontal process of the maxilla to the lacrimal groove of the medial orbit
• Soft-tissue defects - colobomas of the nasal ala and lower eyelid and an inferiorly
displaced medial canthus and globe
• absence or dysfunction of the nasolacrimal system is predictably high

67. • cleft no. 4
• also known as an oroocular cleft
• spares the nose and extends toward a more centric orbital
position
• does not violate the philtral ridge
• extends superiorly through the nasolabial fold and passes
into the orbit just medial to the infraorbital foramen
• medial canthal tendon and nasolacrimal duct are usually
intact
• coloboma of the lower eyelid is present

68. • Cleft no. 5
• primarily distinguished from no. 4 by passing
lateral to the infraorbital foramen
• historically (pre-Tessier) been subdivided into
type I (no. 4) and type II (no. 5) forms of
oroocular clefting.
• originating posterior to the canine
• severe lower eyelid coloboma, inferior
displacement, and partial prolapse of the orbital
contents into the sinus and anophthalmos

69. LATERAL FACIAL CLEFTS
• Synonym - commissural clefts
• second most common orofacial cleft
• Correspond to Tessier no. 7
• extend along a line from the commissure to the tragus
• commonly, a 1- to 3-cm-long cleft is present, with
disruption of the orbicularis and buccinator muscles
and with the cleft edges lined by vermilion

70. MEDIAN MANDIBULAR CLEFTS
• Clefting of the lower face - Tessier cleft no. 30
• Occur through the midline of the lip and
mandible
• extends from mild notching of the lower lip and
mandibular alveolus to complete cleavage of the
mandible, extending into inferior neck
structures
• Tongue involvement is typical ranging from a
bifid anterior tip with ankyloglossia to marked
lingual hypoplasia

71. TREATMENT OF CRANIOFACIAL CLEFTS
• Guiding principles –
• If malformation is severe or if there are functional problems – surgery is
performed early.
• If malformations are mild, surgery should be delayed
• During infancy(3-12 months) – cranial defects and soft tissue clefts are
corrected.
• Older children(6-9years) – midface reconstruction and bone grafting
• Skeletal maturity (>14years) – orthognathic surgery

72. • For the eye, urgent intervention is necessary
• For the eyelid, “lid-switch” transposition flaps are used for skin/muscle
deficiencies
• Accurate repositioning of the medial canthus
• For the lacrimal apparatus
• Correction with silastic stents or DCR
• For the orbit
• bone grafts - to correct dystopia or restore continuity.

73. • For the nose (as in cleft numbers 0 thru 3) -
• The cleft is excised, nasal cartilages are repaired with the use of cartilage
grafts or composite grafts, and local rotation flaps are used for alar
retraction.
• Secondary nasal reconstruction may be performed with cantilevered
cranial bone grafts.

74. • For the upper lip (as in cleft numbers 0 thru 5),
• correction of cleft defects involves aligning the vermilion and restoring
the muscular continuity
• For the oral commissure (as in cleft number 7),
• the lateral element is closed in a straight line. The medial aspect is closed
with a Z-plasty so that the vertical limb is along the nasolabial fold.
• For the lower lip (as in cleft number 30),
• V-excision and layered closure is performed.

75. • For mandibular deformities (as in cleft combinations 6, 7, and 8)
• costochondral grafts may be used for severe deformities
• distraction osteogenesis may be used for moderate deformities in
mid-childhood (6 to 8 years of age).
• Maxillary deformities should be corrected as an adult with a Le Fort I
osteotomy with or without a concomitant mandibular procedure

76. ORBITAL HYPERTELORISM
• GRIEG – first described in 1924.
• Hypertelorism is a physical finding and not a
syndrome. It is usually to some other deformity.

77. Classification
• Mustarde and Jackson classified it as –
1. Cleft related
2. Traumatic
3. Frontonasal encephalocele
4. Ethmoid or frontal sinus pathology
5. Nasal pathology
6. Craniosynostosis

78. • Tessier – classified in 3 categories based on increased interortbital
distance.
• Type I = mild, 30mm -34mm
• Type II = moderate, 35mm – 39mm
• Type III = severe, >40mm, exhibits lateral rotation of orbit

79. • Munro – classified as 4 types, combined ethmoid and medial orbital
wall deformities.
• Type A = horizontal thickening of ethmoids
• Type B = anterior ethmoid segment is widened
• Type C = medial bulging of midportion of orbital wall
• Type D = posterior ethmoid widening

80. Pre op evaluation
• Ophthalmologic evaluation – visual status, +/- associated amblyopia
and extraocular dysfunction.
• PA Ceph – interorbital distance
• CT scan – axial and coronal views

81. Treatment
• Carried in accordance with principles of craniofacial surgery
• 1st – combine as many small procedures as is safe into one operation
• 2nd – decrease infection by limiting intraoral & intracranial procedures
• 3rd – decrease number of revision procedures
• 4th – maximize overall esthetics

82. • Intracranial four-wall osteotomy or central segment technique

83. • Combined craniofacial osteotomy: paramedian segments technique

84. • Facial bipartition procedure

85. • Subcranial or U shaped osteotomy
Indications :superiorly positioned
cribriform plate

86. CLEIDOCRANIAL DYSPLASIA
• Cleidocranial dysplasia is a generalized skeletal dysplasia affecting
not only the clavicles but almost the entire skeletal system.
• characterized by -
• aplasia or hypoplasia of the clavicles,
• enlarged calvaria with frontal bossing,
• multiple Wormian bones,
• delayed tooth eruption, supernumerary unerupted teeth
• distal phalanges with abnormally pointed tufts,
• hypoplasia of the pelvis,

87. ETIOLOGY
• Inheritance: autosomal dominant
• Cause
a. Caused by mutations in CBFA1 (RUNX2) gene
• Types of mutations identified are:
• i. Deletion
• ii. Insertion
• iii. Missense
• iv. Nonsense
b. The gene for cleidocranial dysplasia: called corebinding factor A1 (CBFA1),
mapped to 6p21. The alternative gene name is called RUNX2
• No significant genotype/phenotype correlations observed

88. CLINICAL FEATURES
Significant intra- and inter-familial variability of phenotypic expression

89. Head
• A large brachycephalic head
• A broad forehead with frontal bossing
• Delayed closure of the fontanelles and
sutures
• Poorly developed midfrontal area showing
frontal groove owing to incomplete
ossification of the metopic suture
• Soft skull in infancy

90. Face
• Frontal and parietal bossings
• A depressed nasal bridge
• Hypertelorism with possible exophthalmos
• A small, flattened facial appearance with midface
hypoplasia & mandibular prognathism
• An anatomic pattern of dentofacial deformity
consistent with the diagnosis of vertical maxillary
deficiency (short face syndrome, type 2)

91. Oral/dental
• High arched palate
• Clefts involving soft and hard palates
• Persistence of the deciduous dentition with
delayed eruption of the permanent teeth: a
relatively constant finding
• Impaction of supernumerary permanent teeth
• Crowding/malocclusion
• Dentigerous cysts

92. Shoulders and thorax
• Ability to bring shoulders together
• Dimplings in the skin secondary to mild
hypoplasia of the clavicles
• Sloping, almost absent shoulders
secondary to severe hypoplasia or absence
of the clavicles
• Narrow thorax: may lead to respiratory
distress during early infancy

93. • Mildly disproportionate short stature with short limbs comparing to the
trunk and more apparent in the upper limbs than the lower.
• Spine
• Scoliosis
• Kyphosis
• Hands
• Brachydactyly
• Short distal phalanges
• Tapering fingers
• Nail dysplasia/hypoplasia
• Short, broad thumbs
• Clinodactyly of the 5th fingers

94. • Other abnormalities
a. Hearing loss
b. Abnormal gait
c. Joint hypermobility
d. Muscular hypotonia

95. DIAGNOSTIC INVESTIGATIONS
• Prenatal diagnosis:
• Ultrasonography
• i. Hypoplastic clavicles
• ii. Less calcified cranium than expected for gestational age
• iii. Other skeletal anomalies
• Direct DNA testing possible for those families with a known mutation
in the CBFA1

96. Management
1. Hearing evaluation
2. Medical and surgical therapy for upper airway obstruction, recurrent and
chronic sinusitis and otitis
3. Monitor skeletal and orthopedic complications
4. Early surgical and orthodontic intervention of unerupted permanent teeth to
induce eruption
5. Orthognathic surgery to correct mid-face hypoplasia to reduce or correct
significant upper respiratory complication and malocclusions
6. Surgical and orthodontic management of vertical maxillary deficiency

97. References
• Fonseca III ed. vol. 3
• Fonseca 2/7 vol.
• Oral and maxillofacial surgery. Peter ward Booth
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