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Cleft Lip and Palate

Last Minute Revision Notes: Management of Cleft Lip and Palate

Management Timeline

Neonatal Period (Immediate Care)

  • Focus: Feeding, airway management.
  • Feeding: Use of modified bottles and teats. Expressed breast milk preferred.
  • Airway management: In severe cases, nasopharyngeal airway or tracheostomy may be required.

Infancy (0-12 months)

  • Cleft Lip/Nose and Anterior Palate Repair: Performed at 3-6 months.
  • Definitive Cleft Palate Repair: Performed at 6-12 months.
    • Intravelar Veloplasty (IVVP): Reconstruction of the levator muscles to form a muscular sling.

Early Childhood (1-7 years)

  • Regular follow-up: Focus on hearing, speech, dental development, and wound healing.
  • Speech and Language Therapy (SLT): Monitors for velopharyngeal incompetence (VPI) and articulation errors.
  • Hearing: Regular audiological screening for otitis media with effusion (OME).

Late Childhood (7-12 years)

  • Alveolar Bone Grafting (ABG): Timing based on dental development.
    • Early secondary grafting: 5-7 years (based on lateral incisor root development).
    • Late secondary grafting: 8-11 years (based on canine tooth root development).

Adolescence (12-18 years)

  • Orthodontic treatment:
    • Phase 1: 8-10 years to prepare for ABG.
    • Phase 2: 12-18 years for definitive alignment.
  • Orthognathic surgery (if required) for maxillary advancement or bimaxillary surgery at skeletal maturity (16-19 years).

Secondary/Revision Surgery

  • Performed to improve aesthetics or function.
  • Lip and nose revisions: Address issues like vermilion misalignment or nasal deformity.
  • Orthognathic surgery: For maxillary underdevelopment, usually after 16-19 years.

Pierre Robin Sequence - Key Points

  • Triad:
    1. Isolated cleft palate.
    2. Retrognathia (receded jaw).
    3. Glossoptosis (posteriorly displaced tongue).
  • Associated with early airway and feeding difficulties.
  • Airway obstruction may cause hypoxic episodes during sleep/feeding.
  • Management:
    • Conservative management for intermittent obstruction.
    • Severe cases may require supplemental oxygen, nasopharyngeal airway, or tracheostomy.
    • Labioglossopexy (tongue-to-lip adhesion) and mandibular distraction are less commonly practiced options.

Revision Notes

Introduction

  • Congenital abnormalities of the head and neck are complex and often confusing.
  • A classification system is helpful for understanding these conditions.
    • Should explain the aetiology and pathogenesis.
    • Should aid in determining treatment.
  • No ideal classification exists due to the multifaceted nature of these conditions.
    • Examples:
      • Tessier’s classification: purely descriptive of clefts.
      • OMENS classification: specific to hemifacial microsomia.

Classification of Craniofacial Abnormalities

  • van der Meulen's classification considers embryological development:
    1. Formation and fusion of processes (branchial arches):
      • Failure leads to clefting disorders.
      • E.g., failure between the frontonasal process and maxillary process results in a cleft lip (unilateral or bilateral).
    2. Formation of bone and cartilage:
      • Abnormalities termed dysostosis or dyschondrosis.
    3. Growth at sutures between craniofacial bones:
      • Premature fusion leads to synostosis.
  • Central nervous system development also contributes to abnormalities.

Types of Developmental Abnormalities (Table 50.1)

  • Cerebrocranial Dysplasias: Anencephaly, Microcephaly.
  • Cerebrofacial Dysplasias: Rhinencephalic dysplasias, Oculo-orbital dysplasias.
  • Craniofacial Dysplasias with Clefting: Lateronasomaxillary, Medionasomaxillary, etc.
  • Craniofacial Dysplasias with Dysostosis: Various specific bone-related anomalies.
  • Craniofacial Dysplasias with Synostosis:
    • Craniosynostosis: Lambdoid, Sagittal sutures.
    • Craniofaciosynostosis: Metopic, Coronal sutures.
    • Faciosynostosis (Binder syndrome): Vomero-premaxillary fusion.
  • Craniofacial Dysplasias with Dysostosis and Synostosis:
    • Examples: Crouzon syndrome, Apert syndrome, Pfeiffer syndrome.
  • Craniofacial Dysplasias with Dyschondrosis:
    • Example: Achondroplasia.
  • Others: Conditions that do not fit into the above categories.

Epidemiology

  • Incidence varies globally and is hard to quantify.
  • Approximate Incidence Data (Table 50.2):
    • Apert syndrome: 1 in 100,000
    • Pfeiffer syndrome: 1 in 100,000
    • Crouzon syndrome: 1 in 62,500
    • Treacher Collins syndrome: 1 in 50,000
    • Unicoronal synostosis: 1 in 10,000
    • Metopic synostosis: 1 in 7,000
    • Sagittal synostosis: 1 in 5,000
    • Hemifacial microsomia: 1 in 3,500
    • Neurofibromatosis: 1 in 2,600
    • Cleft lip and palate: 1 in 600

Diagnosis

  • Advances in ultrasonography have increased prenatal diagnosis rates.
  • Expansion in genetics has linked more mutations to specific phenotypes.
  • Majority of conditions are diagnosed clinically.

Management

  • Management is delivered by multidisciplinary teams (MDTs) in specialist centres.

Prenatal Management

  • Prenatal surgery is experimental and rare.
  • Options include termination or best supportive care in preparation for birth.
  • Ethical considerations involve local ethics boards and possibly courts.

Neonatal Management

  • Aimed at addressing urgent issues:
    • Airway obstruction:
      • Caused by retropositioned hypoplastic maxilla and hypoplastic mandible.
      • Tracheostomy may be necessary if intubation is impossible.
      • Prone positioning can help in emergencies.
    • Eye protection:
      • Conditions like exorbitism in syndromic craniosynostoses (e.g., Apert syndrome) can lead to ocular dislocation.
      • Inadequate eyelid closure can cause corneal damage.
    • Feeding difficulties:
      • Structural anomalies may require specialized teats or naso/orogastric feeding.
      • Input from a specialist feeding nurse is beneficial.

Management in Infancy (0–12 months)

  • Focuses on functional issues and skull surgery for craniosynostosis.
  • Distraction osteogenesis can be used to advance the mandible in retrognathic patients.
    • Involves gradual lengthening of the bone to improve airway.
  • Craniosynostosis:
    • Premature fusion of skull sutures.
    • Can lead to raised intracranial pressure.
    • May present with distress, listlessness, disturbed sleep, and papilloedema.
  • Vision obstruction needs to be addressed to prevent amblyopia.

Management in Early Childhood (1–12 years)

  • Addresses both functional problems and appearance.
  • Visible differences can affect social and emotional development.
  • Psychological support is crucial for the child and family.
  • Sleep apnoea may develop; parents should monitor for:
    • Noisy snoring.
    • Daytime tiredness.
  • Management of Obstructive Sleep Apnoea:
    • Tonsillectomy/adenoidectomy.
    • Midface advancement.
    • Mandibular distraction.
    • Use of ventilator support devices.

Management in Late Childhood to Maturity

  • Focus shifts to optimizing overall appearance.
  • Transition periods (e.g., starting secondary school) can be challenging.
  • Surgery may be offered for pressing psychological reasons but is usually postponed until growth is complete.
  • A comprehensive corrective plan is developed within the MDT.

Cleft Lip and Palate

Introduction

  • Most common congenital abnormality affecting the orofacial region.
  • Often occurs as an isolated deformity but can be associated with other conditions.
  • Associated with over 300 syndromes.
  • All children with a cleft are screened for other congenital abnormalities.
  • Genetic counselling may be organized if associated with a syndrome.

Incidence

  • Incidence is around 1 in 600 live births.
  • Geographical and ethnic variations exist:
    • Higher incidence in South East Asian and Native American populations.
  • Typical distribution:
    • Cleft lip alone: 15%
    • Cleft lip and palate: 45%
    • Isolated cleft palate: 40%

Classification of Cleft

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  • Divided into two clinical phenotypes:
    1. Isolated cleft palate.
    2. Cleft lip with or without alveolus or palate involvement.
  • Variations in combinations exist to define:
    • Extent of the cleft.
    • Laterality: left, right, or bilateral.
  • Classification aids in:
    • Diagnosis.
    • Prognosis.
  • Unilateral cleft lip and palate (UCLP) data are collected for outcome comparisons.
  • Gender prevalence:
    • Cleft lip and/or palate is more common in males.
    • Isolated cleft palate is more common in females.
  • In UCLP, the left side is affected in 60% of cases.

Summary Box 50.1: Overview of Cleft Lip and Palate

  • Two main phenotypes:
    • Isolated cleft palate.
    • Cleft lip with or without palate involvement.
  • Gender differences:
    • Cleft palate more common in females.
    • Cleft lip and/or palate more common in males.
  • Incidence/prevalence shows geographical variation.
  • Simple classification systems describe phenotype.

Cleft Lip and Palate Revision Notes

Introduction

  • Cleft lip and/or palate is the most common congenital abnormality affecting the orofacial region.
  • Can occur as isolated deformities or associated with other medical conditions.
  • Associated with over 300 syndromes, including Stickler, DiGeorge, Down, Apert, and Treacher Collins syndromes.

Incidence

  • Incidence is around 1 in 600 live births.
  • Geographical and ethnic variations exist:
    • Higher incidence in South East Asian and Native American populations.
  • Typical distribution:
    • Cleft lip alone: 15%
    • Cleft lip and palate: 45%
    • Isolated cleft palate: 40%
  • Gender differences:
    • Cleft lip and/or palate more common in males.
    • Isolated cleft palate more common in females.
  • In unilateral cleft lip and palate (UCLP), the left side is affected in 60% of cases.

Aetiology

  • Multifactorial cause: combination of genetic and environmental factors.
  • Family history increases risk:
    • Affected first-degree relatives suggest underlying genetic mutations.
  • Isolated cleft palate is more commonly associated with syndromes than cleft lip and palate or isolated cleft lip.
  • Common syndromes associated:
    • Stickler syndrome: Ophthalmic and musculoskeletal abnormalities.
    • DiGeorge syndrome: Cardiac and thymic anomalies.
    • Down syndrome, Apert syndrome, Treacher Collins syndrome.
  • Environmental factors:
    • Maternal epilepsy and associated medications.
    • Drugs implicated: Steroids, diazepam, sodium valproate, phenytoin.
    • The role of antenatal folic acid supplements is equivocal.

Pierre Robin Sequence

  • Condition comprising:
    • Isolated cleft palate.
    • Retrognathia (receded jaw).
    • Glossoptosis (posteriorly displaced tongue).
  • Associated with early airway and feeding difficulties.
  • Airway obstruction can lead to hypoxic episodes during sleep and feeding.
  • Management:
    • Conservative for intermittent obstruction.
    • Severe cases may require:
      • Supplemental oxygen.
      • Nasopharyngeal airway.
      • Tracheostomy.
      • Labioglossopexy (surgical adhesion of the tongue to the lower lip) is less commonly practiced.
      • Mandibular distraction surgery lacks consensus support.

Summary

  • The cause of cleft lip and/or palate is multifactorial.
  • Most cases occur without a clear family history or known risk factors.
  • Clefts can be associated with many craniofacial/medical syndromes.

Embryology and Pathogenesis

  • Clefts occur at points of fusion of facial processes during embryonic development.
  • Lip and palate derived from facial prominences/processes.

Developmental Processes

  1. Lip/Nose Complex:
    • Derived from median nasal process and maxillary processes.
  2. Primary Palate:
    • Derived from median nasal process.
    • Includes structures anterior to the incisive foramen: alveolus and philtral portion of upper lip.
    • Remainder of lip from maxillary processes.
  3. Secondary Palate:
    • Derived from maxillary processes.
    • Includes structures posterior to the incisive foramen: hard palate and soft palate.
    • Cleft palate results from failure of fusion or descent of the two palatal shelves.
  4. Abnormal muscle insertion leads to aesthetic and functional sequelae.

Summary

  • Clefts occur at the points of fusion of facial processes.
  • Normal anatomical structures are displaced and disrupted.
  • Abnormal muscle insertion results in aesthetic and functional consequences.

Clinical Anatomy

Cleft Lip

  • Abnormalities are due to disruption of upper lip and nasolabial muscles.
  • Muscle continuity is disrupted, leading to:
    • Cleft lip.
    • Abnormal muscle insertions at the cleft edge.
  • Effects seen on the nasal septum and nose.

Unilateral Cleft Lip

  • Muscle rings disrupted on one side.
  • Results in asymmetric upper lip and/or nose.
  • Involves:
    • External nasal cartilages.
    • Nasal septum.
    • Anterior maxilla (premaxilla).
  • Influences mucocutaneous tissues:
    • Displacement of nasal skin onto the lip.
    • Retraction of labial skin.
    • Changes to vermilion and lip mucosa.
  • Surgical repair must consider all these changes.

Bilateral Cleft Lip

  • Disruption is greater but often symmetrical.
  • Muscular continuity disrupted bilaterally.
  • Features:
    • Flaring of the nose (due to lack of nasolabial muscle continuity).
    • Protrusive premaxilla.
    • Prolabium: Area of skin in front of premaxilla devoid of muscle.
  • Muscular, cartilaginous, and skeletal deformities influence mucocutaneous tissues.
  • Must be considered in surgical repair planning.

Cleft Palate

  • Primary Palate:
    • Structures anterior to the incisive foramen: alveolus and upper lip.
  • Secondary Palate:
    • Structures posterior to the incisive foramen: hard palate and soft palate.
  • Cleft Palate results from failure of fusion of palatine shelves.
    • Incomplete cleft: Hard palate remains attached to nasal septum and vomer.
    • Complete cleft: Nasal septum and vomer are completely separated from palatine processes.

Soft Palate

  • In non-cleft, closure of velopharynx is essential for normal speech development.
    • Achieved by elevation of soft palate via levator veli palatini muscle.
  • In cleft palate:
    • Muscle fibers are oriented anteroposteriorly, inserting into the posterior edge of hard palate.
    • Leads to functional impairment.

Hard Palate

  • Divided into three zones:
    1. Central palatal fibromucosa: Thin, below floor of nose.
    2. Maxillary fibromucosa: Thick, contains greater palatine neurovascular bundle.
    3. Gingival fibromucosa: Lateral, adjacent to teeth.
  • In complete cleft palate:
    • Median palatal vault is absent.
    • Palatal fibromucosa is reduced.
    • Maxillary and gingival fibromucosa remain unmodified.

The Cleft Multidisciplinary Team (MDT) and Primary Management

  • Well-coordinated patient pathways are essential.
  • Antenatal diagnosis:
    • Most cleft lips diagnosed via anomaly scan at ~20 weeks.
    • Isolated cleft palate not detectable with routine scanning.
    • Doppler studies may aid in diagnosing isolated cleft palate.
  • Referral to cleft team upon diagnosis.

Cleft MDT Members

  • Cleft Coordinator/Administrator:
    • Ensures clinical episodes are organized per protocol.
  • Clinical Nurse Specialist (CNS):
    • First clinical contact.
    • Assesses feeding, airway, and well-being.
    • Prepares child for surgery.
  • Paediatrician:
    • Manages associated medical problems (e.g., cardiac, respiratory).
  • Speech and Language Therapist (SLT):
    • Vital for cases with palatal involvement.
    • Assesses and provides therapy for speech development.
  • Ear–Nose–Throat (ENT)/Audiology:
    • Regular hearing tests.
    • Interventions for hearing loss.
  • Paediatric Dentist:
    • Focus on disease prevention.
    • Ensures oral health.
  • Orthodontist:
    • Involved around 7 years of age.
    • Prepares for alveolar bone grafting (ABG).
    • Definite orthodontic alignment.
    • Key in orthognathic surgery at skeletal maturity.
  • Clinical Psychologist:
    • Provides support to patients, families, team.
    • Assesses quality of life outcomes.
  • Cleft Surgeon:
    • Corrects anatomical abnormalities.
    • Plans for limited surgical interventions (1–3 operations in childhood).
    • Surgical outcomes are audited annually.

Immediate/Neonatal Care

Feeding

  • Babies with cleft palate need assistance to feed well and thrive.
  • Feeding aids:
    • Aim to improve efficiency and reduce effort.
    • Expressed breast milk is best.
    • Modified bottles and teats:
      • Soft bottles allow parents to assist feeding.
  • Feeding plates (constructed from dental impression) were used in the past.
  • Nasoalveolar Moulding (NAM):
    • Active plates used to reduce cleft width and improve nasal shape prior to surgery.
    • Conflicting evidence on long-term benefits.

Summary

  • Babies with a cleft may have issues with feeding and airway.
  • A team of clinicians is required to meet all the needs.
  • Initial care is mostly non-surgical.

Principles of Cleft Surgery

  • Aim to facilitate normal development and well-being.
  • Surgical repair targets producing normal anatomy in lip, nose, and palate.
  • Emphasis on muscular reconstruction.
  • Normal anatomy promotes normal function and growth.
  • Key outcomes measured:
    • Speech.
    • Facial growth.
    • General well-being.
    • Dental health.

Surgical Techniques

  • Timing and techniques vary worldwide.
  • UK Protocol (popularized in Norway):
    • Cleft Lip/Nose and Anterior Palate Repair:
      • Performed between 3 and 6 months of age.
      • Anterior palate closure using single-layer mucosal flap from the vomer.
      • Lip closure focuses on muscle repair over skin incision.
    • Definitive Cleft Palate Repair:
      • Carried out between 6 and 12 months.
      • Intravelar Veloplasty (IVVP):
        • Incisions along cleft edge to access soft palate muscle.
        • Levator muscles are dissected and sutured to recreate a muscular sling.

Summary

  • Treatment staged from anterior (lip) to posterior (soft palate).
  • Muscle reconstruction is key in lip repair.
  • Management of the levator sling is crucial in cleft palate repair.

Age 1–7 Years: Early Years Care/Follow-up

  • Regular MDT review is essential.
  • Areas of focus:
    • Hearing:
      • Eustachian tube dysfunction leads to otitis media with effusion (OME).
      • Children with palatal clefts have increased incidence.
      • Regular audiological screening is important.
    • Speech:
      • SLTs engage early with families.
      • Speech monitored throughout development.
      • Early intervention for speech pathology.
      • Problems:
        1. Velopharyngeal Incompetence (VPI):
          • Soft palate fails to achieve adequate closure.
          • Leads to hypernasality and unintelligible speech.
        2. Articulation Errors:
          • Compensatory mechanisms due to VPI.
          • May be caused by jaw/dental abnormalities.
      • Investigations:
        • Lateral videofluoroscopy.
        • Nasendoscopy.
      • Secondary speech surgery may be offered for structural issues like VPI.
    • Dental Development:
      • Dental anomalies are common.
      • Issues include:
        • Delayed tooth development and eruption.
        • Morphological abnormalities.
        • Hypodontia or hyperdontia, especially involving the maxillary lateral incisor.
      • Regular dental examinations are crucial.
      • Preventive measures:
        • Dietary advice.
        • Fluoride supplements.
        • Fissure sealants.
      • Good oral health is essential for successful orthodontic treatment.
    • Wound Healing and Aesthetics:
      • Wound infections are rare but may require revision surgery.
      • Lip revisions can be timed pre-school or during other procedures like ABG.
      • Palatal dysfunction may require further surgery.

Age 7–12 Years: Late Childhood Care/Follow-up

Alveolar Bone Grafting (ABG)

  • Key surgical intervention for patients with alveolar involvement.
  • Types:
    • Primary bone grafting: At same time as primary cleft lip surgery.
    • Secondary bone grafting: Later in development, more common.
  • Timing is based on dental development:
    • Lateral incisor (if present): Early secondary grafting at 5–7 years.
    • Canine tooth: Late secondary grafting when root is half to two-thirds formed (8–11 years).
  • Orthodontic treatment may precede ABG to:
    • Expand alveolar cleft for surgical access.
    • Align adjacent teeth.
  • Success rate is high.
  • Primary objectives:
    • Provide bony support for adult teeth.
    • Enable eruption of teeth into dental arch.
    • Stabilize premaxilla in bilateral clefts.
    • Definitively close residual alveolar cleft.
  • Secondary benefits may include aesthetic improvements.

Orthodontic Treatment

  • Often carried out in two phases:
    1. Mixed Dentition (8–10 years):
      • Prepare for ABG.
    2. Permanent Dentition (12–18 years):
      • Definitively align dental arches.
      • May be linked to orthognathic surgery preparation.

Secondary/Revision Surgery

  • Aimed to improve aesthetics and/or function.
  • May not have been planned during primary surgery.

Cleft Lip/Nose Revision

  • Indications depend on site and severity of residual deformity.

Lip Revision Indications

  • Misaligned vermilion.
  • Lip asymmetry.

Nasal Deformity Indications

  • Incorrect alar base position.
  • Poor nasal tip projection.
  • Deviation of nasal septum into non-cleft nostril.
  • Residual nasal deformity indicates incomplete reconstruction of nasolabial muscle ring.
  • Major nasal surgery usually delayed until after 14–15 years.
  • Open septorhinoplasty may be considered for definitive correction.

Orthognathic Surgery

  • Impaired midface growth (maxillary hypoplasia) is common.
  • Factors involved:
    • Genetic factors.
    • Local factors from primary surgery.
  • Elective maxillary advancement or bimaxillary surgery restores aesthetics and occlusion.
  • Performed when facial growth is complete:
    • 16–17 years in females.
    • 17–19 years in males.
  • Corrects underdevelopment in horizontal and vertical directions.

Summary

  • Cleft care has undergone significant reorganization.
  • Managed by multidisciplinary teams (MDTs).
  • Specific training pathways for cleft surgery exist.
  • Outcome data collection is essential for evidence-based improvements.

Summary

  • Cleft surgery in infants is time sensitive.
  • Aesthetic and functional outcomes are important and measured.
  • Surgery involves restoration of muscle position to near normal.
  • Planned surgery includes bone grafting for alveolar involvement.
  • Revision/secondary surgery optimizes outcomes.