Cleft Lip and Palate
Summary
Cleft Lip and/or Palate (CLP) is the most common congenital craniofacial anomaly, resulting from the failure of fusion of the facial prominences during early embryogenesis. It presents as a discontinuity in the upper lip, alveolus (gum), and/or palate (roof of mouth). The condition is not merely cosmetic; it has profound functional implications for airway, feeding, speech, hearing, and dentition. Management is longitudinal, requiring a multidisciplinary team from birth until adulthood.
Key Facts
- Definition: A separation or gap in the lip and/or palate due to failure of embryological fusion.
- Prevalence: ~1 in 700 live births. Cleft Lip + Palate is most common (50%), followed by Isolated Palate (30%), then Isolated Lip (20%).
- Timing: Lip forms at 5-6 weeks gestation. Palate forms at 8-10 weeks gestation.
- Key Management: Surgical closure is staged. "Rule of 10s" guides lip repair (10 weeks, 10lbs, 10g Hb).
- Critical Association: Isolated Cleft Palate has a much higher rate of associated syndromes (50%) than Cleft Lip (15%).
- Key investigation: Antenatal Ultrasound (20-week anomaly scan) detects most lips, but rarely palates.
Clinical Pearls
The "Bifid Uvula" Warning: Always inspect the uvula in a newborn. A split (bifid) uvula may indicate a Submucous Cleft Palate, where the mucosa is intact but the muscles underneath are not joined. This causes speech problems ("Velopharyngeal Insufficiency") later in life often misdiagnosed as laziness.
Pierre Robin Sequence: A triad of Micrognathia (small jaw) + Glossoptosis (tongue falls back) + Cleft Palate (U-shaped). This is an AIRWAY EMERGENCY in a neonate. Do not place these babies on their back; nurse prone or side-lying to keep the tongue forward.
The "Glue Ear" Link: Almost 100% of cleft palate children get glue ear (Otitis Media with Effusion). The Tensor Veli Palatini muscle (which opens the Eustachian tube) inserts into the soft palate. If the palate is split, the muscle cannot open the tube, leading to fluid buildup and deafness.
Why This Matters Clinically
A cleft is not "fixed" by a single operation. It is a 20-year journey. The primary care physician plays a vital role in coordinating the "Cleft Team" (Speech, ENT, Orthodontics, Psychology) and ensuring the child is not lost to follow-up, as complications like deafness or bullying can be silent but devastating.
Incidence & Prevalence
- Global: 1 in 700.
- Variation: Highest in Asian/Native American populations (1 in 500). Lowest in Afro-Caribbean populations (1 in 2500).
- Sex:
- Cleft Lip (+/- Palate): 2x more common in Males.
- Isolated Cleft Palate: 2x more common in Females.
Epidemiology Stratification Table
| Feature | Cleft Lip +/- Palate (CLP) | Isolated Cleft Palate (CP) |
|---|---|---|
| Incidence | Common (1:1000) | Less Common (1:2000) |
| Sex Ratio | Male > Female (2:1) | Female > Male (2:1) |
| Laterality | Left > Right (2:1) | Midline defect |
| Syndrome Risk | Low (15%) | High (50%) |
| Race | Asian > Caucasian > African | Consistent across races |
| Recurrence | Increases with severity | Consistent |
Demographics and Genetics
- Recurrence Risk:
- One child affected: 4% risk for next child.
- One parent affected: 4% risk.
- Parent + Child affected: 15% risk.
Risk Factors
Environmental (Teratogens):
- Anticonvulsants: Phenytoin, Sodium Valproate (10x risk).
- Smoking: Maternal smoking in 1st trimester increases risk 2x.
- Alcohol: Fetal Alcohol Syndrome.
- Folic Acid Deficiency: Lack of supplementation.
Genetic Syndromes (most common with Isolated Palate):
- Van der Woude Syndrome: Lip pits + Cleft (Autosomal Dominant).
- DiGeorge Syndrome (22q11 deletion): Cardiac defects + Cleft.
- Treacher Collins: Mandibular hypoplasia.
Embryology: How Facial Fusion Fails
Normal Development (Weeks 4-10):
- Week 4: Neural crest cells migrate to form the 5 facial prominences.
- Week 5-6: The Maxillary Prominence grows medially to meet the Medial Nasal Prominence.
- If they fail to fuse -> CLeft Lip.
- Week 7: The Primary Palate (Alveolus) fuses.
- Week 8: The tongue drops down from the nasal cavity. The Palatal Shelves flip up from vertical to horizontal.
- Week 9-10: The shelves fuse in the midline (Secondary Palate).
- If they fail to fuse -> Cleft Palate.
- Week 12: Fusion is complete.
Key Concept: "Fusion requires touch". If the shelves are too small (hypoplasia) or the tongue is in the way (Pierre Robin), they never touch, so they never fuse.
Classification (Veau System)
Visualizing the extent of the defect.
| Class | Anatomical Defect | Description |
|---|---|---|
| Veau I | Soft Palate only | Cleft of the velum/uvula. |
| Veau II | Hard + Soft Palate | Involves secondary palate up to incisive foramen. |
| Veau III | Unilateral Lip + Palate | Complete cleft including alveolus (gum) on one side. |
| Veau IV | Bilateral Lip + Palate | "Floating Premaxilla". Complete separation of frontal process from maxilla on both sides. |
Antenatal Diagnosis
Postnatal Signs
The Submucous Cleft
The hidden diagnosis.
Special Focus: Pierre Robin Sequence (PRS)
A true neonatal emergency.
The Triad:
- Micrognathia: The mandible is tiny.
- Glossoptosis: Because the jaw is small, the tongue has nowhere to go but backwards. It falls against the posterior pharyngeal wall.
- Cleft Palate: Usually U-shaped (wide). This happens because the tongue was in the way during fusion.
Clinical Consequence: Airway Obstruction
Management Ladder:
- Positioning: Nurse Prone (on tummy) or Side-lying. Gravity pulls the tongue forward. (70% success).
- Nasopharyngeal Airway (NPA): A tube through the nose past the tongue base (20%).
- Surgical:
- Tongue-Lip Adhesion: Sewing tongue to lip (rare now).
- Mandibular Distraction Osteogenesis (MDO): Breaking the jaw and slowly lengthening it with screws.
- Tracheostomy: Last resort.
Structured Approach
Inspection:
- Lip: Unilateral or bilateral? Complete (into nostril) or Incomplete?
- Nose: Flattening of nasal ala on cleft side?
- Palate: Use a tongue depressor and torch. Look all the way back. Inspect uvula.
Palpation:
- Feel the palate midline with a gloved finger to exclude submucous cleft.
Systemic Exam (Syndrome search):
- Heart: Murmurs (VSD/Tetralogy consistent with 22q11).
- Hands: Finger anomalies.
- Ears: Low set? Pits?
Management Algorithm
(See Section 2 for ASCII)
Practical Feeding Guide for Parents
Feeding is the greatest initial source of stress. The anatomy is broken, but the instinct is not.
The Problem:
- Cleft Lip only: Usually fine. The breast tissue fills the gap.
- Cleft Palate: Cannot create suction. The mouth is connected to the nose, so they cannot pull milk out of a teat or breast.
The Solution: Compression Feeding
- We bypass the need for suction.
- Specialist Bottles (e.g., Dr Brown's Specialty Feeding System):
- Has a "Infant Paced Feeding Valve".
- Milk only flows when baby compresses the teat (biting action), not via suction.
- Prevents flooding/choking.
- Squeezable Bottles (e.g., Mead Johnson / Haberman):
- Parent actively squeezes the reservoir in time with the baby's suck-swallow-breathe rhythm.
- Rhythm: Squeeze-Release-Rest.
Positioning:
- Upright (45-60 degrees): Gravity helps milk go down the oesophagus, not up the nose.
- Burping: Cleft babies swallow huge amounts of air. Burp frequently (every 15-30mL).
- Duration: Limit feeds to 30 minutes. If longer, baby burns more calories than they gain. Top up via NG tube if necessary in early days.
Feeding Equipment Details
| Bottle Type | Mechanism | Best For |
|---|---|---|
| Dr Brown's Specialty | One-way valve. Milk flows into teat but doesn't flow back. Baby compresses teat to release milk. | Infants with strong compression. Easier for parents (no squeezing needed). |
| Haberman (SpecialNeeds) | Variable flow slit-valve. Parent squeezes the teat to assist flow. 3 lines indicate flow rate (Slow/Med/Fast). | Weak infants who tire easily. Allows precise volume control. |
| Pigeon / MAM | Soft teat + Air valve. | Mild clefts or unilateral lip only. |
| Spoons / Cup | Gravity feed. | Post-operative period (No sucking allowed). |
Troubleshooting Feeding:
- Choking/Coughing: Flow is too fast. Switch to slower teat or stop squeezing. Sit baby more upright.
- Fatigue: Feed taking >30 mins. Flow is too slow. Increase teat size or squeeze more actively.
- Nasal Regurgitation: Normal! Don't panic. Wipe it away and continue. It does not choke them (separate pathway).
Referral Checklist (Primary Care to Specialist)
When to refer urgently:
- Airway: Any audible stridor or cyanosis with feeds -> Same Day.
- Feeding: Weight loss >10% at Day 5 -> Same Day (Needs NG tube).
- Diagnosis: Any suspected cleft (even submucous) -> Within 24 hours (To register with Cleft Team).
- Ent: Failed newborn hearing screen -> Routine (Cleft clinic will handle).
Surgical Timeline: The "Rule of 10s"
Ideally, lip repair is performed when the child meets these criteria (approx 3 months):
- 10 weeks old.
- 10 lbs (4.5kg) weight.
- 10 g/dL Haemoglobin. (Ensures anaesthetic safety).
Surgical Procedures
Surgical Procedures (Detailed)
1. Lip Repair (Cheiloplasty)
- Age: 3-6 months.
- Goals: Restore muscle continuity (Orbicularis Oris), create cupid's bow, fix nasal symmetry.
- Technique: Millard Rotation-Advancement Flap:
- The standard technique for unilateral clefts.
- Rotation Flap: Cuts the non-cleft side lip and rotates it down to lengthen the lip.
- Advancement Flap: Pulls the cleft-side lateral lip element medially to fill the gap.
- C-Flap: Used to lengthen the columella (base of nose).
- Muscle Repair: The Orbicularis Oris muscle is dissected and sutured specially to ensure pucker function.
2. Palate Repair (Palatoplasty)
- Age: 6-12 months.
- Rationale: Must be closed before speech development (babbling) to prevent "learning" bad habits.
- Goals: Separate nose from mouth (for hygiene/eating) and create a functional velopharyngeal valve (for speech).
- Technique: Intravelar Veloplasty (IVVP):
- Crucial step involving the dissection of the Levator Veli Palatini muscles.
- These muscles are normally oriented wrongly (longitudinally) in a cleft.
- They must be detached, turned 90 degrees, and sutured transversely to create a "muscle sling" that lifts the palate during speech.
- Technique: Furlow Z-Plasty:
- Uses opposing Z-shaped flaps to lengthen the soft palate while closing it.
3. Secondary Procedures
- Pharyngoplasty: If speech remains hypernasal (Age 4-6).
- Alveolar Bone Graft: Bone from hip put into gum gap to allow canine tooth to erupt (Age 8-11).
- Rhinoplasty/Orthognathic: Final cosmetic tweaking (Age 16+ after growth stops).
The "Cleft Pathway" (Longitudinal Timeline)
| Age | Focus | Intervention |
|---|---|---|
| Birth | Diagnosis / Feeding | Feeding assessment, Hearing screen (OAE), Genetic testing. |
| 3 Months | Lip Surgery | Primary Lip Repair. Insertion of Grommets if needed. |
| 6-12 Months | Palate Surgery | Primary Palate Repair. |
| 18 Months | Speech | First formal Speech & Language Assessment. |
| 3 Years | Speech / Dental | Review speech development. Check for decay (high risk). |
| 5 Years | School Ready | "School Entry Audit" (National dataset). Psychology support for teasing. |
| 8-11 Years | Orthodontics | Alveolar Bone Graft (ABG). Pre-graft expansion braces. |
| 12-15 Years | Orthodontics | Fixed appliances (Train tracks). Monitor jaw growth. |
| 18-20 Years | Final Surgery | Orthognathic Surgery (Le Fort I osteotomy) if jaw discrepancy. Rhinoplasty. |
| 21 Years | Discharge | Final records. Genetic counselling for their own future children. |
Ear and Hearing
- Eustachian Tube Dysfunction: Universal in cleft palate.
- OME (Glue Ear): Results in conductive hearing loss.
- Management: Regular audiometry. Low threshold for Grommets (Ventilation Tubes) at time of palate repair. Hearing aids if grommets fail.
Speech Pathology: Velocpharyngeal Insufficiency (VPI)
The most feared functional complication.
The soft palate (velum) acts as a trapdoor. When we say "oral" sounds (P, B, T, K, S), it lifts up to seal off the nose. If the repair is short or the muscles weak, it leaks.
Types of Speech Errors:
- Hypernasality: The voice sounds "honking". Vowels resonate in the nasal cavity.
- Nasal Emission: Air hisses out of the nose during pressure consonants (S, P). You can fog up a mirror held under the nose.
- Grimacing: Child crinkles their nose trying to stop the air leak physically.
- Compensatory Articulation (Glottal Stops):
- Because the child cannot make pressure in the mouth (e.g., for "K"), they make the sound in the throat (Glottis).
- "Puppy" becomes "Uhh-ee".
- Treatment: Speech Therapy helps articulation. Surgery (Pharyngoplasty) helps VPI resonance. Therapy CANNOT fix VPI structural leaks.
Speech Therapy: Home Exercises (Play-based)
For parents to do with toddlers (Age 18m - 3y).
-
The "P" Popper:
- Put a small piece of tissue paper on the back of the hand.
- Encourage child to say "P-P-P-Pop!" to blow it off.
- Teaches oral airflow instead of nasal.
-
Nose Pinching:
- If child learns to act out "S" sounds through their nose, gently pinch their nose closed while they try to say "Ssssst".
- This forces the air out of the mouth.
- Release and repeat. "Feel the air on your lips".
-
Straw Games:
- Blowing cotton balls across a table with a straw.
- Drinking thick smoothies through a thin straw (strengthens palatal lift).
-
Mirror Work:
- Use a mirror under the nose.
- Ask child to say "Baby".
- If the mirror fogs up, air is leaking. "clean the mirror".
Dental
- Hypodontia: Missing teeth (especially lateral incisor).
- Malocclusion: Class III (underbite) is common because the maxilla does not grow forward well after scar tissue forms.
Cosmetic
- Modern repairs (Rotation-Advancement) yield excellent results. Scar is often minimal (philtral ridge).
- Bilateral clefts are harder to make symmetrical.
Functional
- Speech: 70-80% develop normal speech after primary repair. 20% need further surgery or intense therapy.
- Hearing: Usually normalizes by adolescence as Eustachian tube matures.
Psychosocial
- High risk of bullying and self-esteem issues in adolescence.
- Routine Psychology review is part of the Cleft Team protocol.
Associated Conditions (Syndromes)
Approximately 30% of clefts are syndromic.
| Syndrome | Key Features | Genetics | Management Priority |
|---|---|---|---|
| Pierre Robin Sequence | Triad: Micrognathia + Glossoptosis + U-shaped Palate. | SOX9 usually but often sporadic. | AIRWAY. Nurse prone. Nasopharyngeal airway. Mandibular distraction. |
| Van der Woude | Lip Pits (paramedian) + Cleft Lip/Palate. Hypodontia. | IRF6 (Autosomal Dominant). | Cosmetic excision of lip pits. High recurrence risk (50%). |
| Stickler Syndrome | Flat face + High Myopia + Retinal Detachment + Arthritis. | COL2A1 / COL11A1 (Collagen defect). | EYES. Regular retinal checks. Avoid contact sports? |
| DiGeorge (22q11) | Cardiac (VSD/Tetralogy) + Thymic aplasia (Immune) + Hypocalcemia + Palate. | TBX1 deletion on Ch 22. | Cardiac surgery first. Calcium replacement. Learning support. |
| Treacher Collins | Downslanting eyes + Small ears (Microtia) + Zygomatic hypoplasia. | TCOF1 (Treacle protein). | Bone-anchored hearing aids (BAHA). Cheek implants later. |
- "The visible scar heals quickly; the invisible one takes longer."*
The Infant/Toddler (0-3 Years)
- Parental Grief: Diagnosis is a shock ("loss of the perfect baby"). Feeding stress bonds parent/child tightly but anxiously.
- Surgery Trauma: Hospital separations.
The School-Age Child (5-10 Years)
- Speech Frustration: If unintelligible, peers may exclude them.
- Teasing: Noticeable differences (scar, nose) attract comments.
- Intervention: School visits by Cleft Nurses to explain "Why Jimmy looks different" (e.g., "His muscles just didn't join up") stops bullying before it starts.
The Adolescent (13-18 Years)
- Appearance: Nose shape and lip scar become central to self-image. Dating anxiety.
- Treatment Burden: Braces + Alveolar Bone Graft + secondary surgeries happen right when they want to fit in.
- Resistance: Teenagers often refuse speech therapy or surgery. Respecting autonomy vs medical necessity is key.
Q: Did I cause this by something I ate or did? A: In the vast majority of cases, no. Clefts happen due to a complex mix of genetics and chance. It is rarely due to a specific "fault" of the parent.
Q: Can I breastfeed? A: If it is just a Cleft Lip, yes, often successful. If it is a Cleft Palate, usually no. The baby cannot make the vacuum seal needed to suck milk out of the breast. Pumping and bottle feeding is the standard.
Q: Will the scar go away? A: There will always be a faint scar, but surgeons place it along the natural line of the lip (philtral column) so it blends in. As the child grows, it becomes very faint.
Q: Is it painful for the baby? A: The surgery is done under anaesthetic. We use good painkillers afterwards. Babies heal amazingly quickly and are often smiling within days.
Key Guidelines
- Eurocleft Project. Consensus on timing and protocols for cleft management.
- Cleft Lip and Palate Association (CLAPA). Feeding Guidelines for Newborns.
Landmark Trials
Timing of Palate Repair Study (SCANDCLEFT)
- Question: Is early repair (6 months) better for speech than late repair (12 months)?
- Finding: Earlier repair generally favours better speech outcomes but may affect facial growth (maxillary hypoplasia) more. 9-12 months is the current "sweet spot".
CSAG (Clinical Standards Advisory Group) Study (UK)
- Finding: Centralization of cleft services (High volume centres) dramatically improved outcomes compared to ad-hoc local repairs.
- Impact: Cleft care is now highly centralized (e.g., "The Hub and Spoke Model").
Evidence Strength
| Intervention | Level | Key Evidence |
|---|---|---|
| Folic Acid Prevention | 1a | Multiple Case-Control Studies (Small reduction risk). |
| Centralized Care | 2b | CSAG Audit Data (Huge quality improvement). |
| Alveolar Bone Graft | 2b | Standard of care for canine eruption. |
Primary Sources
- Mossey PA et al. Cleft lip and palate. Lancet. 2009;374(9703):1773-1785. PMID: 19747722
- Shaw WC et al. The Eurocleft study: intercenter study of treatment outcome in patients with complete cleft lip and palate. Cleft Palate Craniofac J. 1992.
Image Sources
- Figure 1: Unilateral Cleft. Source: CDC (Public Domain).
- Figure 2: Veau Classification. Source: Adapted from MedVellum Schematic.
Further Resources
- CLAPA (Cleft Lip and Palate Association): www.clapa.com
- Smile Train: www.smiletrain.org
Medical Disclaimer: MedVellum content is for educational purposes and clinical reference. Clinical decisions should account for individual patient circumstances. Always consult appropriate specialists.