isolated Pierre-Robin syndrome
Findings
No curated finding names isolated Pierre-Robin syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Pierre-Robin syndrome (or Pierre-Robin sequence) is characterized by triad of orofacial morphological anomalies consisting of retrognathism, glossoptosis and a posterior median velopalatal cleft.
Definition from the Mondo Disease Ontology (MONDO:0009869), read 2026-09-29. CC BY 4.0.
Features
22 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Cleft palateHPOHP:0000175
- Very frequent (80% to 99% of cases)
- GlossoptosisHPOHP:0000162
- Very frequent (80% to 99% of cases)
- MicrognathiaHPOHP:0000347
- Very frequent (80% to 99% of cases)
- Failure to thriveHPOHP:0001508
- Frequent (30% to 79% of cases)
- Feeding difficulties in infancyHPOHP:0008872
- Frequent (30% to 79% of cases)
- HypoxemiaHPOHP:0012418
- Frequent (30% to 79% of cases)
- Neonatal respiratory distressHPOHP:0002643
- Frequent (30% to 79% of cases)
- PolyhydramniosHPOHP:0001561
- Frequent (30% to 79% of cases)
- Upper airway obstructionHPOHP:0002781
- Frequent (30% to 79% of cases)
- BronchomalaciaHPOHP:0002780
- Occasional (5% to 29% of cases)
- Choanal atresiaHPOHP:0000453
- Occasional (5% to 29% of cases)
- Cor pulmonaleHPOHP:0001648
- Occasional (5% to 29% of cases)
Show the remaining 10
- CyanosisHPOHP:0000961
- Occasional (5% to 29% of cases)
- DysphagiaHPOHP:0002015
- Occasional (5% to 29% of cases)
- Elevated pulmonary artery pressureHPOHP:0004890
- Occasional (5% to 29% of cases)
- LaryngomalaciaHPOHP:0001601
- Occasional (5% to 29% of cases)
- Sleep apneaHPOHP:0010535
- Occasional (5% to 29% of cases)
- StridorHPOHP:0010307
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SOX9HGNC:11204
- Definitive · G2P · Autosomal dominant · 2015
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · ClinGen · Autosomal dominant · 2024
Where it sits
- A kind of
- Narrower terms (1)
Other names
2 names
Resolves to: isolated Pierre-Robin syndrome
- Also called
- isolated Pierre Robin sequencePierre Robin Sequence