ORPHA:718
Isolated Pierre Robin sequence
Synonyms: PRS
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Multigenic/multifactorial, Not applicable, Unknown
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare, congenital head and neck malformation characterized by the association of retrognathia and glossoptosis, with or without cleft palate, and respiratory obstruction.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated Pierre Robin sequence | PRS |
| fr | Syndrome de Pierre Robin isolé | = en |
| de | Pierre-Robin-Sequenz, isolierte | Isoliertes Pierre-Robin-Syndrom · PRS |
| es | Secuencia de Pierre Robin aislada | SPR |
| it | Sindrome di Pierre Robin isolata | Sequenza isolata di Pierre Robin · PRS |
| nl | Geïsoleerde Pierre Robin sequentie | = en |
| pt | Síndrome Pierre-Robin isolado | PRS · Sequência de Pierre-Robin isolada |
| pl | Izolowany zespół Pierre'a Robina | Izolowana sekwencja Pierre'a Robina |
| cs | Izolovaný Pierre Robinův syndrom | Izolovaná Pierre Robinova sekvence |
| uk | Ізольований синдром Пєра Робена | Ізольована послідовність Пєра Робена |
| zh | 孤立型Pierre Robin综合征 | 孤立型Pierre Robin序列征 |
| tr | İzole Pierre Robin sendromu | İzole Pierre Robin dizisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 261800 | E | validated | |
| ICD-10 | Q87.0 | NTBT | inclusion | validated |
| ICD-11 | LA56 | E | specific | validated |
| MONDO | 0009869 | E | validated | |
| MeSH | D010855 | E | validated | |
| UMLS | C0031900 | E | validated | |
| GARD | 4347 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:728642Genetic syndrome or malformation associated with head and neck malformations
rare genetic diseases - ORPHA:156237Syndrome or malformation associated with head and neck malformations
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SOX9 | Disease-causing germline mutation(s) in | Assessed | HGNC:11204 | ENSG00000125398 | 608160 | 17q24.3 | SRY-box transcription factor 9 | 24934569[PMID]_19234473[PMID] |
5
Prevalence and incidence
15 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | — | United Kingdom | Class only | Not yet validated | 6626822[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 8 / 100 000 | France | Value and class | Validated | 22925539[PMID] |
| Point prevalence | 1-9 / 100 000 | — | France | Class only | Validated | 22925539[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 12.4 / 100 000 | Germany | Value and class | Validated | 24433508[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 3.5 / 100 000 | Denmark | Value and class | Validated | 14697070[PMID] |
| Point prevalence | 1-9 / 100 000 | — | Denmark | Class only | Not yet validated | 14697070[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 4.5 / 100 000 | Sweden | Value and class | Validated | 8897214[PMID] |
| Point prevalence | 1-9 / 100 000 | — | Sweden | Class only | Not yet validated | 8897214[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 5.9 / 100 000 | United Kingdom | Value and class | Validated | 6626822[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 7.9 / 100 000 | United States | Value and class | Not yet validated | ORPHANET |
| Point prevalence | 1-9 / 100 000 | — | United States | Class only | Not yet validated | ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 5 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Validated | [EXPERT] |
| Prevalence at birth | 1-9 / 100 000 | 6.4 / 100 000 | Netherlands | Value and class | Validated | 25994858[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 18.8 / 100 000 | Australia | Value and class | Validated | 34626670[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
21 annotations · validated 2024-06-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000175 | Cleft palate | |
| HP:0000162 | Glossoptosis | |
| HP:0000347 | Micrognathia | |
| Frequent (79-30%) | ||
| HP:0001508 | Failure to thrive | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0012418 | Hypoxemia | |
| HP:0002643 | Neonatal respiratory distress | |
| HP:0001561 | Polyhydramnios | |
| HP:0002781 | Upper airway obstruction | |
| Occasional (29-5%) | ||
| HP:0002780 | Bronchomalacia | |
| HP:0000453 | Choanal atresia | |
| HP:0001648 | Cor pulmonale | |
| HP:0000961 | Cyanosis | |
| HP:0002015 | Dysphagia | |
| HP:0004890 | Elevated pulmonary artery pressure | |
| HP:0001601 | Laryngomalacia | |
| HP:0010535 | Sleep apnea | |
| HP:0010307 | Stridor | |
| HP:0001607 | Subglottic stenosis | |
| HP:0002777 | Tracheal stenosis | |
| HP:0002779 | Tracheomalacia | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 30851756[PMID]_32965884[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/718
- This record as JSON: /data/d/718.json