Pierre Robin Sequence
Summary
Pierre Robin Sequence (PRS) is a congenital condition characterised by the triad of micrognathia (small lower jaw), glossoptosis (tongue falling back), and cleft palate (typically U-shaped). It is a "sequence" rather than a syndrome because the anomalies occur in a chain: the small jaw limits the space for the tongue during fetal development, which then prevents the palatal shelves from fusing. The primary clinical concern is upper airway obstruction caused by the tongue falling back, especially when the infant is supine. PRS can occur in isolation or as part of a syndrome (e.g., Stickler syndrome). Management focuses on airway support (prone positioning, nasopharyngeal airway, or mandibular distraction) and feeding assistance.
Key Facts
- Triad: Micrognathia → Glossoptosis → Cleft palate (U-shaped)
- Mechanism: Sequence of anomalies, not independent defects
- Primary Problem: Airway obstruction (esp. supine)
- Syndromic: Often associated with Stickler syndrome
- Management: Prone positioning, NPA, Distraction osteogenesis
- Prognosis: Good with early airway management
Clinical Pearls
"Micrognathia → Glossoptosis → Cleft Palate": The sequence is key — small jaw leads to tongue malposition, which prevents palate closure.
"Prone is Safe": Prone positioning allows the tongue to fall forward and relieves obstruction.
"U-Shaped Cleft": The cleft palate in PRS is typically wide and U-shaped (posterior).
"Think Stickler": Up to 30% of PRS cases are associated with Stickler syndrome — Check eyes and joints.
Incidence
- 1 in 8,000-14,000 live births
Demographics
- M = F
- Can be isolated or syndromic
Associations
| Condition | Notes |
|---|---|
| Stickler syndrome | Most common association (~30%); Connective tissue disorder; Eye and joint problems |
| Velocardiofacial syndrome | |
| Treacher Collins syndrome | |
| Isolated PRS | ~40-50% |
The Sequence
- Micrognathia (small mandible) develops early in gestation
- Mandible constrains the tongue → Tongue sits high in the oral cavity
- Glossoptosis → Tongue falls back into hypopharynx
- Tongue prevents palatal shelves from fusing → Cleft palate (U-shaped)
Airway Obstruction
- Tongue falls back in supine position
- Obstructs pharynx
- Worse during sleep, feeding, and when agitated
At Birth
| Feature | Description |
|---|---|
| Micrognathia | Small, recessed lower jaw |
| Glossoptosis | Tongue falling back |
| Cleft palate | Wide, U-shaped (posterior) |
| Airway obstruction | Stridor, Desaturation, Cyanosis (esp. supine) |
Feeding Difficulties
Syndromic Features (if Associated)
Inspection
- Small, receding chin (micrognathia)
- Cleft palate visible on oral examination
- Breathing pattern (obstructed?)
Airway Assessment
- Position-dependent obstruction (worse supine)
- Stridor, Intercostal recession
- Oxygen saturations
Feeding Assessment
- Ability to suck
- Nasal regurgitation
Syndromic Features
- Eye examination (Stickler)
- Cardiac auscultation
Airway
| Test | Purpose |
|---|---|
| Sleep study (Polysomnography) | Assess severity of obstruction |
| Flexible nasendoscopy | Visualise tongue base obstruction |
| Blood gases | Hypoxia, Hypercapnia |
Syndromic Workup
| Test | Purpose |
|---|---|
| Genetic testing | Stickler syndrome (COL2A1, etc.) |
| Ophthalmology | Myopia, Retinal detachment |
| Audiology | Hearing assessment |
| Echo | If cardiac concerns |
Airway Management
┌──────────────────────────────────────────────────────────┐
│ PIERRE ROBIN SEQUENCE - AIRWAY MANAGEMENT │
├──────────────────────────────────────────────────────────┤
│ │
│ MILD OBSTRUCTION: │
│ • Prone or side positioning │
│ • Avoids tongue falling back │
│ • Often sufficient for mild PRS │
│ │
│ MODERATE OBSTRUCTION: │
│ • Nasopharyngeal airway (NPA) │
│ • Keeps airway open; May be long-term │
│ • Requires training for parents/carers │
│ │
│ SEVERE OBSTRUCTION: │
│ • Mandibular Distraction Osteogenesis (MDO) │
│ - Surgical lengthening of mandible │
│ - Brings tongue forward │
│ • Tongue-Lip Adhesion (TLA) — Rarely used now │
│ • Tracheostomy — Last resort │
│ │
│ MONITORING: │
│ • Continuous pulse oximetry (especially overnight) │
│ • Sleep study to assess improvement │
│ │
└──────────────────────────────────────────────────────────┘
Feeding Management
- Specialist feeding support
- Specialised teats (squeeze bottles)
- Nasogastric (NG) or gastrostomy feeding if needed
- Cleft team input
Cleft Palate Repair
- Usually at 9-12 months
- Timing depends on airway stability
MDT Care
- Cleft team (Surgeon, SALT, Nurse Specialist)
- ENT
- Genetics
- Ophthalmology (if Stickler)
Of PRS
- Airway obstruction → Hypoxia → Brain injury
- Aspiration pneumonia
- Failure to thrive
- Cor pulmonale (chronic hypoxia)
- Death (if severe obstruction unmanaged)
Of Treatment
- NPA: Nasal trauma, Infection
- Distraction: Tooth bud damage, Infection, Facial scarring
- Tracheostomy: Complex care, Infection
With Early Management
- Most children do well
- Mandible catches up with growth (mandibular catch-up)
- Airway improves with age
Cleft Palate
- Speech may be affected
- Requires speech therapy
Stickler Syndrome
- Requires lifelong ophthalmology follow-up
Key Guidelines
- GOSH: Pierre Robin Sequence Management
- CRANE Database (UK Cleft Registry)
Key Evidence
Mandibular Distraction
- Effective for severe obstruction; Avoids tracheostomy in most
What is Pierre Robin Sequence?
Pierre Robin Sequence is a condition that some babies are born with. It includes:
- A small lower jaw (micrognathia)
- The tongue falling back in the throat (glossoptosis)
- A cleft (gap) in the roof of the mouth
Why Is the Airway a Problem?
Because the jaw is small, the tongue can fall back and block the airway, especially when the baby is lying on their back. This can cause breathing difficulties.
How is It Managed?
- Positioning: Lying on the tummy or side helps keep the airway open
- Nasopharyngeal airway: A small tube through the nose can keep the airway open
- Surgery: In severe cases, an operation to lengthen the jaw can help
Will My Baby Need Surgery for the Cleft Palate?
Yes, the cleft palate is usually repaired at around 9-12 months of age.
What's the Outlook?
Many children with Pierre Robin Sequence grow up to live normal, healthy lives. The jaw often catches up in size as the child grows.
Primary Guidelines
- Great Ormond Street Hospital. Pierre Robin Sequence.
Key Studies
- Evans KN, et al. Mandibular distraction osteogenesis for treatment of airway obstruction in infants with Pierre Robin sequence. Arch Otolaryngol Head Neck Surg. 2006. PMID: 17116815