Imperforate oropharynx-costovertebral anomalies syndrome
historical
Synonyms: Seghers syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- historical
Imperforate oropharynx-costovertebral anomalies syndrome is a dysostosis with predominant vertebral and costal involvement characterized by oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Imperforate oropharynx-costovertebral anomalies syndrome | Seghers syndrome |
| fr | Syndrome d'imperforation de l'oropharynx-anomalies costovertébrales | Syndrome de Seghers |
| de | Oropharynx imperforatus - costovertebrale Fehlbildungen | Seghers-Syndrom |
| es | Síndrome de imperforación orofaríngea-anomalías costovertebrales | Síndrome de Seghers |
| it | Sindrome da orofaringe imperforato ed anomalie costovertebrali | Sindrome di Seghers |
| nl | Ongeperforeerde orofarynx - costovertebrale anomalieën-syndroom | Syndroom van Seghers |
| pt | Síndrome orofaringe imperfurada-anomalias costo-vertebrais | Síndrome Seghers |
| pl | Zespół zarośnięcia ustnej części gardła z wadami żeber i kręgów | Zespół Seghersa |
| cs | Syndrom zahrnující neperforovaný orofarynx a kosto-vertebrální anomálie | Seghersův syndrom |
| uk | Синдром неперфорованих ротоглотково-реберно-вертебральних аномалій | Синдром Сегерса |
| zh | 口咽闭锁-肋椎骨异常综合征 | Seghers综合征 |
| tr | İmperforat orofarinks-kostovertebral anomaliler sendromu | Seghers sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.5 | NTBT | attributed | validated |
| MONDO | 0017162 | E | validated | |
| UMLS | C4749770 | E | validated | |
| GARD | 2989 | 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:93454Dysostosis with predominant vertebral and costal involvement
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone 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 | 2 cases | Worldwide | Case(s) | Validated | 2929659[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_2929659[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
27 annotations · validated 2017-09-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0000159 | Abnormal lip morphology | |
| HP:0000772 | Abnormal rib morphology | |
| HP:0000153 | Abnormality of the mouth | |
| HP:0000600 | Abnormality of the pharynx | |
| HP:0000288 | Abnormality of the philtrum | |
| HP:0002094 | Dyspnea | |
| HP:0002937 | Hemivertebrae | |
| HP:0000369 | Low-set ears | |
| HP:0000921 | Missing ribs | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0002098 | Respiratory distress | |
| HP:0002878 | Respiratory failure | |
| Frequent (79-30%) | ||
| HP:0009896 | Abnormality of the antitragus | |
| HP:0010295 | Aplasia/Hypoplasia of the tongue | |
| HP:0001166 | Arachnodactyly | |
| HP:0000453 | Choanal atresia | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000286 | Epicanthus | |
| HP:0001382 | Joint hypermobility | |
| HP:0011302 | Long palm | |
| HP:0000396 | Overfolded helix | |
| HP:0001561 | Polyhydramnios | |
| HP:0001622 | Premature birth | |
| HP:0000431 | Wide nasal bridge | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2759
- This record as JSON: /data/d/2759.json