Summary
The Pierre Robin sequence is not a disease but a chain of malformations: first a too-small lower jaw (micrognathia) forms, pushing the tongue backwards (glossoptosis) and thereby preventing palate closure, creating a U-shaped cleft palate. The main problem after birth is airway obstruction. The goal of initial care is to secure the airway – stepwise, from prone positioning through a nasopharyngeal airway to mandibular distraction osteogenesis.
In a sequence, a chain of malformations results from one primary cause. In PRS this cause is a too-small or too-retruded mandible: the tongue cannot descend → keeps the palatal halves apart → a characteristic U-shaped (not V-shaped) cleft palate forms. The brain is not affected.
Prevalence: about 1 : 8,000–14,000 (estimates vary by diagnostic criteria). In 50–70 % of cases PRS is isolated; in 30–50 % a syndrome is present.
| Aspect | Isolated PRS | Syndromic PRS |
|---|---|---|
| Cleft palate shape | U-shaped | U-shaped (or complex) |
| Mandibular catch-up growth | Good (often complete by school age) | Variable, often incomplete |
| Intelligence | Normal | Variable depending on syndrome |
| Prognosis | Good; often normal in adulthood | Depends on the syndrome |
| Genetic work-up | Recommended (to rule out a syndrome) | Mandatory |
About 30–35 % of syndromic PRS are Stickler syndromes (COL2A1, COL11A1/A2). Key features: high myopia, joint hypermobility, sensorineural hearing loss, risk of retinal detachment. Ophthalmological review is mandatory.
| Syndrome | Frequency in PRS | Key features | Gene |
|---|---|---|---|
| Stickler | 30–35 % of syndromic PRS | Myopia, joint problems, sensorineural hearing loss, retinal detachment | COL2A1, COL11A1 |
| 22q11.2 deletion (DiGeorge/VCF) | approx. 10–15 % | Heart defect, immune deficiency, VPI (velopharyngeal insufficiency), learning difficulties, voice problems | 22q11.2 |
| CHARGE | rare | Colobomas, heart defect, choanal atresia, growth delay | CHD7 |
| Treacher Collins | rare | Cheekbone and lower-jaw underdevelopment, external-ear malformation | TCOF1 |
| Trisomy 18 | rare | Severe multiple disability | Chromosome 18 |
More information on VPI and the speech consequences of 22q11.2 syndrome:
VPI assessment, nasality, 22q11.2 specifics and speech-therapy planning in PRS → Speech therapy & language development
Glossoptosis causes obstructive apnoeas – in the supine position the tongue falls passively into the pharynx. Severity ranges from quiet obstruction when supine to a vital threat. Pulse oximetry and monitoring are mandatory in the first days of life.
Micrognathia + glossoptosis + cleft palate make coordinated sucking very difficult. Special bottles, an adapted feeding position (upright, 45–90°) or nasogastric feeding may be necessary.
Special bottles, palatal plate, tube feeding and weight monitoring in cleft children → Feeding newborns with a cleft
Cleft palate → eustachian tube dysfunction → recurrent middle-ear effusions (otitis media with effusion). Early hearing screening (ABR/BERA) and regular audiological checks. Grommets for persistent effusions.
Treatment is strictly stepwise and depends on the severity of the airway obstruction. Each step is only escalated if the previous one is insufficient. With this approach, tracheostomy can be avoided in the great majority of cases.
| Step | Measure | Indication | Timing | Duration |
|---|---|---|---|---|
| 1 | Prone / side position | Mild obstruction only when supine | Immediately after birth | Until improvement |
| 2 | Nasopharyngeal airway (NPA) | Moderate obstruction, prone position insufficient | Neonatal | Weeks to months |
| 3 | Mandibular distraction (MDO) | Severe obstruction, NPA failure or dependence | Week of life 1–4 | Definitive |
| 4 | Tongue-lip adhesion (TLA) | Rare; when MDO is not possible | As needed | Temporary |
| 5 | Tracheostomy | Last resort when all other measures fail | As needed | Until correction possible |
In MDO the lower jaw is surgically lengthened via an osteotomy: distractors pull the bone segments apart by 1 mm per day. Over 14–21 days new bone forms (callus formation), and the lower jaw is lengthened by 10–15 mm.
In PRS, palate closure is usually planned at 12–18 months – not at 9–12 months as in isolated clefts. Reasons: (1) to observe mandibular catch-up growth; (2) to better assess airway risk after anaesthesia; (3) to await the jaw relationship after MDO.
In isolated PRS the lower jaw shows marked catch-up growth from the first months of life. In about 70–80 % of children with isolated PRS the mandible is clinically normal by school age (6–7 years). Nonetheless, regular orthodontic checks are important – some need orthognathic corrective surgery in adulthood.
| Specialty | Checks / measures |
|---|---|
| Maxillofacial surgery | Growth course, orthognathic planning |
| Orthodontics | Neonatal palatal plate, retention, dysgnathia |
| ENT / audiology | Hearing screening, grommets, sleep-apnoea monitoring |
| Speech therapy | Feeding advice, language development, VPI |
| Ophthalmology | Mandatory in Stickler syndrome (retinal detachment) |
| Medical genetics | Syndrome work-up, family counselling |
| Neonatology / paediatrics | Feeding, thriving, development |
PRS requires immediate neonatological assessment and interdisciplinary care over many years.
Funding: all acute measures (NPA, MDO, palate closure, grommets, prescribed speech therapy) are generally covered by mandatory health insurance (KVG). In syndromic forms, additional disability-insurance (IV) benefits are possible.
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Further pages on this condition – diagnostics, treatment, cross-cutting topics and research.
Selected authoritative external sources on this condition.
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