Chapter 11: Craniofacial and Cleft Surgery¶

Cleft lip and palate repair, alveolar bone grafting, distraction osteogenesis, craniosynostosis, hemifacial microsomia, and the craniofacial team model.

Introduction¶

Craniofacial surgery represents one of the most technically demanding and intellectually rewarding domains within oral and maxillofacial surgery. The OMS surgeon serves as a central figure on the craniofacial team, managing the bony and soft-tissue reconstruction that underpins functional rehabilitation of speech, mastication, and airway patency. This chapter covers the full spectrum of craniofacial and cleft care from the OMS perspective: primary cleft lip and palate repair, secondary revision procedures, alveolar bone grafting, velopharyngeal insufficiency management, distraction osteogenesis, craniosynostosis correction, and management of hemifacial microsomia and other craniofacial anomalies.

The AAOMS Parameters of Care (ParCare 6^th edition, Section VII: Craniomaxillofacial Deformities) and the ACPA (American Cleft Palate-Craniofacial Association) guidelines provide the evidence-based framework referenced throughout this chapter.

Epidemiology and Embryology¶

Incidence¶

Orofacial clefts are the most common craniofacial birth defect, occurring in approximately 1 in 700 live births worldwide (Dixon et al., Nat Rev Dis Primers, 2011). Racial variation is significant:

Asian/Native American: ~1:500
Caucasian: ~1:700
African descent: ~1:2,500

Cleft lip with or without palate (CL/P) accounts for roughly 50% of cases, isolated cleft palate (CP) for 30%, and isolated cleft lip for 20%. Males predominate in CL/P (2:1), while isolated CP is more common in females.

Embryologic Basis¶

The face develops from five facial prominences (frontonasal, paired maxillary, paired mandibular) during weeks 4-10 of gestation:

Week 5-7: Fusion of medial nasal prominences with maxillary prominences forms the primary palate (premaxilla, lip, and alveolus anterior to the incisive foramen)
Week 7-12: Palatal shelves elevate from horizontal and fuse in the midline (anterior to posterior) to form the secondary palate
Failure of fusion at any stage produces the clinical spectrum of orofacial clefting

Clinical Pearl

The junction of the primary and secondary palates at the incisive foramen is the embryologic landmark that distinguishes cleft lip/alveolus defects (primary palate) from cleft palate defects (secondary palate). This distinction is fundamental to classification and surgical planning.

Veau Classification¶

Class	Description
I	Soft palate only
II	Soft and hard palate (to incisive foramen)
III	Complete unilateral cleft (lip, alveolus, hard/soft palate)
IV	Complete bilateral cleft

The more detailed Kernahan "Y" classification and the Lahshal notation system are widely used for documentation and research purposes.

Craniofacial Team Model¶

The ACPA mandates that cleft and craniofacial care be delivered through a coordinated interdisciplinary team (ACPA Standards for Cleft Palate and Craniofacial Teams, revised 2018). Required team members include:

OMS surgeon / Plastic surgeon (surgical reconstruction)
Orthodontist (dentofacial orthopedics, presurgical orthopedics)
Speech-language pathologist (VPI assessment, speech therapy)
Otolaryngologist (middle ear disease, airway management)
Pediatric dentist (dental home, restorative care)
Prosthodontist (obturators, speech bulbs, prosthetic rehabilitation)
Psychologist/Social worker (psychosocial support)
Geneticist (syndromic diagnosis, recurrence counseling)
Audiologist (hearing assessment)
Nurse coordinator (care coordination)

Surgical Caution

Approximately 30% of cleft patients have an associated syndrome (e.g., Pierre Robin sequence, 22q11.2 deletion/velocardiofacial syndrome, Stickler syndrome). A genetics evaluation is essential before surgical planning, as syndromic patients may have cardiac anomalies, airway issues, or healing differences that affect anesthetic and surgical risk.

Timeline of Care¶

gantt
    title Cleft Care Timeline
    dateFormat  YYYY
    axisFormat  %Y

    section Infancy
    NAM / Presurgical Orthopedics   :a1, 0000, 90d
    Cleft Lip Repair (3-6 mo)       :a2, after a1, 30d
    Palate Repair (9-18 mo)         :a3, 0001, 90d
    PE Tubes (as needed)            :a4, 0000, 365d

    section Childhood
    Speech Therapy                  :b1, 0002, 1460d
    VPI Surgery (if needed, 4-6y)   :b2, 0004, 90d
    Alveolar Bone Graft (8-11y)     :b3, 0008, 90d

    section Adolescence
    Orthodontics                    :c1, 0011, 730d
    Orthognathic Surgery (16-18y)   :c2, 0016, 90d
    Rhinoplasty (16-18y)            :c3, 0016, 90d

Presurgical Orthopedics¶

Nasoalveolar Molding (NAM)¶

Nasoalveolar molding, developed by Grayson and Cutting at NYU, is an active presurgical orthopedic appliance that simultaneously molds the alveolar segments and nasal cartilages beginning at 1-2 weeks of age. The device consists of an acrylic palatal plate with nasal stents that apply sustained low-force pressure to reshape the nasal cartilage, approximate the alveolar segments, and lengthen the columella (in bilateral cases).

Indications:

Complete unilateral or bilateral cleft lip and palate
Wide alveolar gaps (>10 mm)
Severely distorted nasal cartilage

Evidence: A prospective study by Shetty et al. (Cleft Palate Craniofac J, 2012) demonstrated improved nasal symmetry at 5-year follow-up in NAM-treated patients. However, the Americleft study (Russell et al., Cleft Palate Craniofac J, 2015) showed no significant difference in nasolabial appearance between NAM and non-NAM centers at age 6, generating ongoing debate.

Clinical Pearl

NAM is most effective when initiated within the first 2 weeks of life, before the nasal cartilages lose their estrogen-mediated plasticity (maternal circulating estrogen). Compliance requires weekly adjustments and dedicated parental commitment.

Lip Taping and DynaCleft¶

For centers without NAM capability, simple lip taping or the DynaCleft device provides passive approximation of the alveolar segments and can narrow the cleft gap prior to surgery.

Primary Cleft Lip Repair¶

Timing¶

The traditional "Rule of 10s" (10 weeks, 10 pounds, hemoglobin 10 g/dL) provides a safe guideline for lip repair timing (Wilhelmsen & Musgrave, 1966). Most centers perform primary lip repair between 3-6 months of age.

Unilateral Cleft Lip Repair¶

Rotation-Advancement Technique (Millard)¶

The Millard rotation-advancement repair remains the most widely taught and performed technique worldwide (Millard, Cleft Craft, 1976):

Rotation flap: The medial lip element is rotated inferiorly to lengthen the shortened philtral column
Advancement flap: The lateral lip element is advanced medially to fill the gap created by rotation
C-flap: Used for nasal sill reconstruction

Advantages: Preserves Cupid's bow, places the scar along the philtral column, allows incremental adjustment during surgery.

Limitations: Potential for short lip on the cleft side, secondary whistle deformity.

Fisher Technique¶

The Fisher anatomic subunit repair (Fisher, Plast Reconstr Surg, 2005) uses precise anthropometric measurements to reconstruct each anatomic subunit of the lip independently:

Philtral column defined by precise measurements from the non-cleft side
Small triangular flap at the vermilion-cutaneous junction corrects height discrepancy
Places the majority of the scar along the philtral column

Advantages: More precise and reproducible than Millard; reduced revision rates in some series (Fisher et al., Plast Reconstr Surg, 2005).

Primary Rhinoplasty¶

Most centers now perform simultaneous primary nasal correction at the time of lip repair. McComb (1975) and Salyer (1986) demonstrated the safety and efficacy of primary rhinoplasty. Techniques include:

Elevation and repositioning of the lower lateral cartilage on the cleft side
Alar base repositioning and cinch suture
Columellar lengthening (in bilateral cases)

Bilateral Cleft Lip Repair¶

Bilateral repair presents unique challenges: a mobile premaxilla, deficient columella, and absence of the philtral dimple.

Mulliken technique: Simultaneous bilateral repair with creation of a philtral column using musculocutaneous flaps from the lateral lip elements (Mulliken, Plast Reconstr Surg, 1999)
Premaxillary setback: Historically performed (but now largely abandoned due to growth restriction); modern approach uses presurgical orthopedics (NAM, lip adhesion) to align segments
Columellar lengthening: Achieved via forked flaps (Mulliken) or delayed secondary elongation

Critical Safety

Never surgically set back the premaxilla in infancy. Premaxillary setback causes severe midface growth restriction and should be reserved as an absolute last resort (Berkowitz, Cleft Palate Craniofac J, 1996). Modern presurgical orthopedics and staged surgical approaches have eliminated the need for this procedure.

Primary Palate Repair (Palatoplasty)¶

Timing¶

Most cleft teams perform palate repair between 9-18 months of age, balancing two competing priorities:

Early repair (9-12 mo): Optimizes speech development by closing the palate before babbling transitions to true speech
Later repair (15-18 mo): May reduce maxillary growth impairment

The Scandcleft randomized trial (Lohmander et al., Plast Reconstr Surg, 2017) demonstrated that repair at 12 months produced equivalent speech outcomes to 6-month repair, supporting 10-14 months as the optimal window.

Techniques¶

Two-Flap Palatoplasty (Bardach)¶

The workhorse technique for complete cleft palate repair:

Incisions along the cleft margin and bilateral relaxing incisions
Elevation of full-thickness mucoperiosteal flaps from the hard palate
Dissection of the tensor veli palatini tendon from the hamulus
Intravelar veloplasty (muscle dissection and midline reapproximation)
Three-layer closure: nasal mucosa, muscle, oral mucosa

Von Langenbeck Technique¶

Bipedicled mucoperiosteal flaps are raised and medially advanced without anteroposterior release. Preserves anterior attachment but provides less advancement for wide clefts.

Furlow Double-Opposing Z-Plasty¶

Specifically designed for the soft palate, the Furlow palatoplasty (Furlow, Plast Reconstr Surg, 1986):

Lengthens the soft palate while reorienting the levator muscles
Creates a Z-plasty on both the nasal and oral surfaces, with the Z-directions reversed
Particularly effective for submucous clefts and narrow soft palate clefts

Advantages: Lengthens the palate without raw surface, optimal muscle reorientation.

Limitations: Not suitable for wide hard palate clefts as a standalone technique.

Clinical Pearl

Intravelar veloplasty (IVV) is the single most important step in palatoplasty. The levator veli palatini muscles are abnormally inserted along the posterior hard palate margin in the cleft palate. IVV detaches these muscles and reapproximates them in the midline, creating the functional levator sling essential for velopharyngeal closure (Sommerlad, Plast Reconstr Surg, 2003).

Two-Stage Palate Repair¶

Some protocols (e.g., Schweckendiek, Zurich approach) advocate:

Soft palate repair at 6-9 months (to optimize speech)
Hard palate repair at 15-18 months or later (to minimize growth disturbance)

Evidence from the Zurich center suggests improved maxillary growth with delayed hard palate repair, but speech outcomes may be compromised (Liao & Mars, Cleft Palate Craniofac J, 2006).

Alveolar Bone Grafting¶

Rationale¶

Secondary alveolar bone grafting provides bone stock in the alveolar cleft for:

Eruption of the permanent canine (or lateral incisor)
Stabilization of the premaxilla
Closure of oronasal fistulae
Nasal alar base support
Foundation for future dental implants

Timing¶

Optimal timing is guided by dental development rather than chronologic age: mixed dentition stage, when the permanent canine root is 50-75% formed (typically 8-11 years). This corresponds to the peak of the canine descending to the cleft site.

Timing	Designation	Indications
Primary (<2 years)	Primary grafting	Largely abandoned (growth restriction)
Early mixed dentition (6-8y)	Early secondary	Orthodontic considerations
Mixed dentition (8-11y)	Secondary (standard)	Standard of care
Permanent dentition (>12y)	Late secondary	Delayed referral, failed primary graft
Adult	Tertiary	Pre-implant grafting

Surgical Technique¶

Donor site: Anterior iliac crest cancellous bone is the gold standard (Boyne & Sands, J Oral Surg, 1972). Alternatives include:

Posterior iliac crest: Greater bone volume, less pain, but prone positioning required
Proximal tibia: Adequate volume for unilateral clefts, lower morbidity
Cranial bone: Membranous bone, lower resorption, but limited volume
Mandibular symphysis: For small defects or revision grafting
rhBMP-2 (off-label): Used by some centers to avoid donor site morbidity; controversial due to cost and unpredictable resorption (Herford et al., J Oral Maxillofac Surg, 2007)

Recipient site preparation:

Raise labial and palatal mucoperiosteal flaps
Identify and close the nasal floor mucosa (watertight closure critical)
Remove any residual tooth buds or ectopic teeth in the cleft
Pack cancellous bone firmly into the defect
Close the labial mucosa without tension

Outcomes Assessment¶

The Bergland scale is the standard radiographic grading system:

Grade	Description
I	Normal alveolar height
II	At least 75% of normal height
III	Less than 75% height, no bony bridge
IV	No bone in the cleft

Success rates (Bergland I-II) for iliac crest grafting range from 80-95% in experienced centers (Bergland et al., Scand J Plast Reconstr Surg, 1986).

Velopharyngeal Insufficiency¶

Pathophysiology¶

Velopharyngeal insufficiency (VPI) occurs when the velopharyngeal sphincter fails to achieve adequate closure during speech, resulting in hypernasality, nasal air emission, and compensatory articulation errors. VPI occurs in approximately 20-30% of cleft palate patients after primary palatoplasty (Kirschner & LaRossa, Clin Plast Surg, 2000).

Assessment¶

Perceptual speech evaluation by a qualified speech-language pathologist is the cornerstone of VPI assessment, supplemented by instrumental measures:

Nasometry: Quantifies nasalance scores (ratio of nasal to total acoustic energy). Normal mean nasalance for oral sentences is ~15-20%; VPI patients typically exceed 30%.
Videofluoroscopy (multiview): Lateral and base views to assess velar elevation, lateral pharyngeal wall motion, and closure pattern
Nasoendoscopy (NNE): Direct visualization of the velopharyngeal port during speech using a flexible endoscope
Pressure-flow analysis: Objective measurement of nasal airflow and pressure

Closure Patterns (Skolnick Classification)¶

Pattern	Description	Preferred Surgery
Coronal	Good lateral wall motion, poor velar elevation	Furlow palatoplasty or pharyngeal flap
Sagittal	Good velar motion, poor lateral wall motion	Sphincter pharyngoplasty
Circular	Symmetric inadequate closure	Sphincter pharyngoplasty
Circular with Passavant's ridge	Near-complete closure with anterior ridge	Posterior pharyngeal flap or fat injection

Surgical Options¶

Furlow Palatoplasty (Revision)¶

For patients with a short palate and suboptimal levator muscle orientation, a Furlow double-opposing Z-plasty may be the first-line VPI surgery (Kirschner et al., Plast Reconstr Surg, 1999). This is particularly effective when the initial palatoplasty did not include intravelar veloplasty.

Posterior Pharyngeal Flap¶

A superiorly based myomucosal flap raised from the posterior pharyngeal wall and inset into the soft palate:

Creates a central obturator with lateral ports for nasal breathing
Most effective for coronal closure pattern with midline gap
Risk of obstructive sleep apnea (10-20% incidence; Liao et al., Plast Reconstr Surg, 2002)

CPT: 42225 (pharyngeal flap)

Sphincter Pharyngoplasty (Orticochea/Jackson)¶

Bilateral palatopharyngeus myomucosal flaps are raised, rotated superiorly, and inset into the posterior pharyngeal wall:

Narrows the velopharyngeal port circumferentially
Best for sagittal or circular closure patterns
Lower OSA risk than pharyngeal flap but may produce hyponasality

CPT: 42226 (pharyngoplasty)

Fat Injection (Autologous)¶

For small residual gaps with near-complete closure, autologous fat injection into the posterior pharyngeal wall augments the pharyngeal pad:

Minimally invasive, can be repeated
Unpredictable resorption (30-50% volume loss)
Best for marginal VPI

Surgical Caution

In patients with 22q11.2 deletion (velocardiofacial syndrome), the internal carotid arteries may be medialized and pulsatile in the posterior pharyngeal wall. Preoperative MRA or CT angiography is mandatory before any pharyngeal surgery in these patients to avoid catastrophic hemorrhage (Witt et al., Plast Reconstr Surg, 1999).

Distraction Osteogenesis¶

Principles¶

Ilizarov's biologic principles of distraction osteogenesis (DO), applied to the craniofacial skeleton by McCarthy et al. (1992), revolutionized treatment of craniofacial skeletal deficiency:

Osteotomy/Corticotomy: Controlled bone cut preserving periosteum and endosteum
Latency period: 5-7 days to allow initial callus organization
Activation/Distraction: Gradual separation at 1 mm/day (typically 0.5 mm BID)
Consolidation: Period of immobilization (typically 2x the distraction period) for mineralization of the distraction regenerate

Mandibular Distraction¶

Indications:

Neonatal micrognathia with airway obstruction (Pierre Robin sequence)
Hemifacial microsomia (Goldenhar spectrum)
Post-traumatic or post-ablative mandibular deficiency
Mandibular hypoplasia in Treacher Collins syndrome

Device types:

External (multidirectional): Allows vector adjustment during distraction; higher pin-site infection rate, psychosocial burden
Internal (unidirectional): Buried submandibularly; requires accurate vector planning; second surgery for removal
Internal (curvilinear): Follows the natural mandibular curvature; reduced need for overcorrection

Technique for neonatal Pierre Robin sequence:

Bilateral subperiosteal mandibular body exposure via submandibular approach
Osteotomy posterior to the mental foramen (protecting the IAN)
Device placement with vector directed anteriorly and inferiorly
Latency 3-5 days (shortened in neonates due to faster biology)
Distraction 1-1.5 mm/day
Consolidation 6-8 weeks

CPT: 21196 (mandibular distraction, internal device) or 21194 (external device)

Clinical Pearl

In neonatal distraction for Pierre Robin sequence, the goal is not simply mandibular lengthening but rather anterior advancement of the tongue base to relieve glossoptosis. Intraoperative flexible laryngoscopy before and after distraction device activation confirms improvement in the airway (Denny et al., Cleft Palate Craniofac J, 2004).

Maxillary/Midface Distraction¶

Indications:

Severe maxillary hypoplasia in cleft patients (when conventional orthognathic advancement exceeds 8-10 mm)
Midface deficiency in Apert, Crouzon, and Pfeiffer syndromes
Post-surgical relapse after conventional LeFort I

Techniques:

LeFort I level distraction: Internal devices (KLS Martin or Synthes distractors) placed after a standard LeFort I osteotomy; distraction vector directed anteriorly and inferiorly
LeFort III distraction (monobloc or LeFort III with RED device): The rigid external distraction (RED) device provides multivectoral control for midface advancement in craniosynostosis syndromes (Polley & Figueroa, J Craniofac Surg, 1997)
LeFort II distraction: Less commonly performed; for central midface deficiency

Advantages over conventional orthognathic surgery:

Gradual advancement reduces relapse (especially for movements >10 mm)
Simultaneous soft tissue expansion (histogenesis)
No need for bone grafting
Reduced dead space, lower infection risk

Disadvantages:

Extended treatment duration
Device management burden for patient/family
Potential for device failure, pin loosening, or infection
Second procedure for device removal (internal devices)

Craniosynostosis¶

Overview¶

Craniosynostosis--premature fusion of one or more cranial sutures--occurs in approximately 1 in 2,000-2,500 live births. It may be isolated (non-syndromic, 85%) or syndromic (15%; Apert, Crouzon, Pfeiffer, Muenke, Saethre-Chotzen).

Classification by Suture¶

Suture	Resultant Head Shape	Frequency
Sagittal	Scaphocephaly (long/narrow)	40-55%
Coronal (unilateral)	Anterior plagiocephaly	20-25%
Metopic	Trigonocephaly	10-15%
Lambdoid (unilateral)	Posterior plagiocephaly	1-3%
Multiple sutures	Variable; often syndromic	5-15%

Surgical Caution

Positional (deformational) plagiocephaly must be distinguished from true lambdoid craniosynostosis. Key differentiators: positional plagiocephaly shows ipsilateral frontal bossing (parallelogram shape), while lambdoid synostosis shows ipsilateral occipitomastoid bulge and contralateral frontal bossing (trapezoid shape). CT with 3D reconstruction confirms the diagnosis.

Surgical Approaches¶

Timing: Surgery is typically performed between 6-12 months of age to take advantage of rapid brain growth as a natural tissue expander.

Endoscopic Strip Craniectomy¶

Minimally invasive removal of the fused suture through two small incisions
Performed ideally at 2-4 months of age
Requires postoperative helmet therapy (12-18 months)
Shorter OR time, reduced blood loss, shorter hospital stay
Excellent outcomes for sagittal and metopic synostosis (Jimenez & Barone, J Neurosurg Pediatr, 2012)

Open Cranial Vault Remodeling¶

Fronto-orbital advancement (FOA): For coronal and metopic synostosis; bandeau osteotomy with orbital bar advancement and forehead remodeling
Total cranial vault remodeling: For multi-suture synostosis
Posterior vault distraction: For sagittal or lambdoid synostosis; spring-mediated or distractor-driven posterior expansion

Spring-Mediated Cranial Expansion¶

Stainless steel springs are placed across the osteotomy and gradually expand the cranial vault over 3-6 months. The springs are removed in a second short procedure. Developed by Lauritzen et al., this technique has growing evidence for efficacy in sagittal synostosis (Delye et al., J Craniofac Surg, 2015).

Role of the OMS Surgeon¶

The OMS surgeon's involvement in craniosynostosis is most prominent in:

Midface advancement (LeFort III, monobloc) for syndromic patients with midface hypoplasia
Orbital surgery in conjunction with neurosurgery
Orthognathic surgery for secondary maxillary/mandibular deformities in adolescence
Distraction osteogenesis for midface deficiency

Hemifacial Microsomia¶

Overview¶

Hemifacial microsomia (HFM), also termed craniofacial microsomia or the oculo-auriculo-vertebral (OAV) spectrum, is the second most common congenital craniofacial anomaly after cleft lip/palate, occurring in ~1:3,500-5,600 live births (Grabb, 1965). It involves hypoplasia of structures derived from the first and second branchial arches, with variable expressivity:

Mandible: Ramus/condyle hypoplasia or aplasia
Ear: Microtia, aural atresia, preauricular tags
Soft tissue: Macrostomia, facial nerve palsy, parotid hypoplasia
Orbit: Orbital dystopia, globe displacement

Pruzansky-Kaban Classification (Mandible)¶

Type	Description	Treatment Strategy
I	Small but normally shaped mandible and glenoid fossa	Functional appliances, possible conventional orthognathic surgery
IIA	Mandibular ramus short; condyle present but abnormal; TMJ functional	Distraction osteogenesis or conventional osteotomy
IIB	Mandibular ramus severely hypoplastic; no functional TMJ; glenoid fossa absent or hypoplastic	Costochondral graft reconstruction + distraction
III	Complete absence of ramus, condyle, and glenoid fossa	Total TMJ reconstruction (costochondral graft or alloplastic)

Surgical Management¶

Early childhood (4-6 years): Mandibular distraction osteogenesis is the preferred approach for Types IIA and IIB to improve symmetry and function during the growth period. For Type IIB/III, costochondral rib graft reconstruction of the ramus-condyle unit may be performed with or without distraction.

Adolescence: Definitive orthognathic surgery (unilateral sagittal split, LeFort I, genioplasty) once growth is complete. Virtual surgical planning is essential given the asymmetric anatomy.

Soft tissue augmentation: Free fat grafting, dermal fat grafts, or free tissue transfer (e.g., anterolateral thigh flap) for contour correction.

Ear reconstruction: Staged rib cartilage framework construction (Nagata technique) or Medpor (alloplastic) framework, typically at age 8-10 years. The OMS surgeon may collaborate with the reconstructive microsurgeon or otolaryngologist for this component.

CPT codes relevant to HFM management:

21244: Reconstruction of mandible, extraoral, with bone graft
21196: Mandibular distraction with internal device
21141-21160: LeFort I, II, III osteotomies

Syndromic Craniofacial Conditions¶

Apert Syndrome¶

Genetics: FGFR2 mutations (Ser252Trp or Pro253Arg)
Features: Bicoronal craniosynostosis, severe midface hypoplasia, complex syndactyly, turribrachycephaly
Surgical sequence: Posterior vault expansion (6-12 mo) -> fronto-orbital advancement (if needed) -> midface advancement (LeFort III or monobloc, age 6-12) -> orthognathic surgery (adolescence)

Crouzon Syndrome¶

Genetics: FGFR2 mutations (multiple loci)
Features: Multi-suture craniosynostosis, severe midface hypoplasia (more than Apert), shallow orbits with proptosis, no hand anomalies
Surgical sequence: Similar to Apert but often requires earlier midface surgery due to severe exorbitism and airway compromise

Treacher Collins Syndrome (Mandibulofacial Dysostosis)¶

Genetics: TCOF1 mutations (autosomal dominant, variable expressivity)
Features: Bilateral symmetric mandibular/malar hypoplasia, coloboma of lower eyelids, microtia/atresia, downslanting palpebral fissures
OMS role: Mandibular distraction in infancy (for airway), costochondral graft reconstruction, orthognathic surgery, malar augmentation (autogenous or alloplastic)

Clinical Pearl

In Treacher Collins syndrome, the airway is the first priority. Neonatal mandibular distraction may obviate the need for tracheostomy. Even with successful distraction, these patients require serial airway assessment as they grow, since the mandible may not keep pace with somatic growth (Tahiri et al., Plast Reconstr Surg, 2014).

Pierre Robin Sequence¶

Not a syndrome per se but a triad of micrognathia, glossoptosis, and airway obstruction, with or without a U-shaped cleft palate. Occurs in ~1:8,500 births.

Management algorithm:

Positional therapy: Prone positioning (first-line for mild cases)
Nasopharyngeal airway: Temporary measure for moderate obstruction
Mandibular distraction osteogenesis: For persistent moderate-severe obstruction (avoid tracheostomy)
Tracheostomy: Reserved for severe obstruction failing other measures
Palate repair: Typically at 10-14 months (may be delayed due to airway concerns)

Secondary Procedures and Long-Term Follow-Up¶

Lip and Nose Revision¶

Secondary lip revision is needed in approximately 25-50% of cleft patients. Timing varies:

Minor revisions: Can be performed at the time of alveolar bone grafting (8-11 years)
Definitive rhinoplasty: Deferred until nasal growth is complete (age 16-18 in females, 17-19 in males)
Abbe flap: Cross-lip flap from the lower lip for reconstruction of a tight upper lip with deficient vermilion (Abbe, 1898)

Fistula Repair¶

Palatal fistulae occur in 5-20% of patients after primary palatoplasty. Repair options include:

Local mucoperiosteal flaps: For small fistulae
Tongue flap: For large anterior palate fistulae
Buccal fat pad flap: Useful interpositional layer
Free tissue transfer: Radial forearm flap for recurrent or large fistulae

Orthognathic Surgery in the Cleft Patient¶

Approximately 25-40% of CL/P patients require orthognathic surgery for maxillary hypoplasia in adolescence (Ross, 1987). Key considerations:

LeFort I advancement is the workhorse procedure; however, relapse rates are higher in cleft patients (20-30% vs. 5-10% in non-cleft patients)
Distraction osteogenesis preferred for advancements >8-10 mm to reduce relapse
Scarred palatal tissues may limit maxillary advancement; the LeFort I osteotomy must be completed carefully with attention to the compromised blood supply from prior palatal surgery
Virtual surgical planning is especially valuable in the asymmetric cleft maxilla

CPT: 21141 (LeFort I, single piece), 21145 (LeFort I, segmental), 21196 (distraction with internal device)

ICD-10: Q35-Q37 (cleft palate, cleft lip), Q75.0 (craniosynostosis), Q67.4 (hemifacial microsomia)

Coding and Reimbursement¶

Procedure	CPT Code	Notes
Cheiloplasty (unilateral)	40700	Primary cleft lip repair
Cheiloplasty (bilateral)	40701
Palatoplasty	42200	Closure of cleft palate
Lengthening of palate	42226	Pharyngoplasty for VPI
Pharyngeal flap	42225
Alveolar bone graft	21210	Bone graft, face (iliac autograft)
LeFort I osteotomy	21141-21160	Based on complexity
Mandibular distraction (internal)	21196
Mandibular distraction (external)	21194
Cranial vault remodeling	61556-61558	With neurosurgery
LeFort III osteotomy	21154-21160

Clinical Pearl

Many craniofacial procedures in cleft patients are covered by medical insurance under mandated cleft care benefits (most states require coverage of cleft-related treatment through age 18-21). Document the functional necessity (speech, breathing, mastication) in the operative note and prior authorization request.

Key References¶

Dixon MJ, Marazita ML, Beaty TH, Murray JC. Cleft lip and palate: understanding genetic and environmental influences. Nat Rev Genet. 2011;12(3):167-178.
Millard DR. Cleft Craft: The Evolution of Its Surgery. Boston: Little, Brown; 1976.
Fisher DM. Unilateral cleft lip repair: an anatomical subunit approximation technique. Plast Reconstr Surg. 2005;116(1):61-71.
Furlow LT. Cleft palate repair by double opposing Z-plasty. Plast Reconstr Surg. 1986;78(6):724-738.
Sommerlad BC. A technique for cleft palate repair. Plast Reconstr Surg. 2003;112(6):1542-1548.
Boyne PJ, Sands NR. Secondary bone grafting of residual alveolar and palatal clefts. J Oral Surg. 1972;30(2):87-92.
Bergland O, Semb G, Abyholm FE. Elimination of the residual alveolar cleft by secondary bone grafting and subsequent orthodontic treatment. Cleft Palate J. 1986;23(3):175-205.
McCarthy JG, Schreiber J, Karp N, Thorne CH, Grayson BH. Lengthening the human mandible by gradual distraction. Plast Reconstr Surg. 1992;89(1):1-8.
Polley JW, Figueroa AA. Rigid external distraction: its application in cleft maxillary deformities. Plast Reconstr Surg. 1998;102(5):1360-1372.
ACPA. Parameters for evaluation and treatment of patients with cleft lip/palate or other craniofacial differences. Cleft Palate Craniofac J. 2018;55(supplement).
AAOMS. Parameters of Care: Clinical Practice Guidelines for Oral and Maxillofacial Surgery (ParCare 6^th ed). 2017; Section VII.
Tahiri Y, Viezel-Mathieu A, Swanson JW, et al. Distraction osteogenesis for Treacher Collins syndrome. Plast Reconstr Surg. 2014;133(6):1437-1444.