Robin sequence-oligodactyly syndrome
historical
Synonyms: Pierre Robin sequence-oligodactyly syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- historical
Robin sequence-oligodactyly syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by Robin sequence (i.e. severe micrognathia, retroglossia and U-shaped cleft of the posterior palate) associated with pre- and postaxial oligodactyly. Facial features can include a narrow face and narrow lower dental arch. Clinodactyly, absent phalanx, metacarpal fusions, and hypoplastic carpals have also been reported. There have been no further descriptions in the literature since 1986.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Robin sequence-oligodactyly syndrome | Pierre Robin sequence-oligodactyly syndrome |
| fr | Syndrome de séquence de Robin-oligodactylie | Syndrome de séquence de Pierre Robin-oligodactylie |
| de | Pierre-Robin-Sequenz - Oligodaktylie | Pierre-Robin-Syndrom- Oligodaktylie |
| es | Síndrome de secuencia de Robin-oligodactilia | Secuencia de Pierre Robin-oligodactilia |
| it | Sindrome da sequenza di Pierre Robin e oligodattilia | |
| nl | Robin sequentie - oligodactylie-syndroom | Pierre Robin sequentie - oligodactylie-syndroom |
| pt | Síndrome de sequência de Robin-oligodactilia | Síndrome de sequência Pierre-Robin-oligodactilia |
| pl | Sekwencja Robina - oligodaktylia | Sekwencja Pierre'a Robina - oligodaktylia |
| cs | Syndrom zahrnující Robinovu sekvenci a oligodaktylii | Syndrom zahrnující Pierre Robinovu sekvenci a oligodaktylii |
| uk | Синдром послідовності Пєра Робена-олігодактилії | Синдром послідовності Пєра Робена - олігодактилії |
| zh | 罗宾序列-少指畸形综合征 | pierre Robin序列征-少指(趾)畸形综合征 |
| tr | Robin dizi-oligodaktili sendromu | Pierre Robin dizisi-oligodaktili sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 172880 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0008247 | E | validated | |
| MeSH | C535688 | E | validated | |
| UMLS | C4749398 | E | validated | |
| GARD | 4729 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:139039Orofacial clefting syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 3777025[PMID]_3425604[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3777025[PMID]_3425604[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.
HPO phenotypes
10 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0040071 | Abnormal morphology of ulna | |
| HP:0009380 | Finger aplasia | |
| HP:0000162 | Glossoptosis | |
| HP:0000347 | Micrognathia | |
| Frequent (79-30%) | ||
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0000175 | Cleft palate | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000275 | Narrow face | |
| Occasional (29-5%) | ||
| HP:0003312 | Abnormal form of the vertebral bodies | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3104
- This record as JSON: /data/d/3104.json