Ring chromosome 8 syndrome
Synonyms: Ring 8 · Ring chromosome 8 · r(8) syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare chromosomal anomaly comprising variable parts of chromosome 8. The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and mental retardation overlapping with the well-known mosaic trisomy 8 syndrome.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ring chromosome 8 syndrome | Ring 8 · Ring chromosome 8 · r(8) syndrome |
| fr | Syndrome du chromosome 8 en anneau | Chromosome 8 en anneau · Syndrome r(8) |
| de | Ringchromosom-8-Syndrom | Ringchromosom 8 · überzähliges Marker/Ring-Chromosom 8 |
| es | Síndrome del cromosoma 8 en anillo | Anillo 8 · Cromosoma 8 en anillo · Síndrome r(8) |
| it | Anello/marcatore derivato dal cromosoma 8 sovrannumerario | Anello/marcatore 8 sovrannumerario · Cromosoma 8 ad anello |
| nl | Ringchromosoom 8-syndroom | Ring 8 · Ringchromosoom 8 · r(8)-syndroom |
| pt | Síndrome do cromossoma 8 em anel | Anel do cromossoma 8 |
| pl | Dodatkowy chromosom markerowy/pierścieniowy pochodzący z chromosomu 8 | Chromosom pierścieniowy 8 · Supernumerary ring/marker 8 |
| cs | Nadpočetný ring/marker chromozom 8 | Ring chromozom 8 · Nadpočetný ring chromozom derivovaný z chromozomu 8 |
| uk | Синдром кільцевої хромосоми 8 | синдром r(8) · Кільце 8 · Кільцева хромосома 8 |
| zh | 环状8号染色体综合征 | r(8)综合征 |
| tr | Halka kromozom 8 sendromu | Halka 8 · r(8) sendromu · Halka kromozomu 8 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q93.2 | NTBT | attributed | validated |
| ICD-11 | LD7Y | NTBT | index | validated |
| MONDO | 0015443 | E | validated | |
| MONDO | 15443 | E | validated | |
| MeSH | C537824 | E | validated | |
| UMLS | C4274902 | E | validated | |
| GARD | 1347 | 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:363203Ring chromosome syndrome
rare developmental anomalies during embryogenesis; rare genetic 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 | 8 cases | Worldwide | Case(s) | Validated | 15337475[PMID]_ISBN 10:3110116073[OTHER] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_ISBN 10:3110116073[OTHER]_15337475[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
14 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000174 | Abnormal palate morphology | |
| HP:0000069 | Abnormality of the ureter | |
| HP:0000463 | Anteverted nares | |
| HP:0004097 | Deviation of finger | |
| HP:0000286 | Epicanthus | |
| HP:0002007 | Frontal bossing | |
| HP:0000348 | High forehead | |
| HP:0000126 | Hydronephrosis | |
| HP:0001249 | Intellectual disability | |
| HP:0002162 | Low posterior hairline | |
| HP:0001561 | Polyhydramnios | |
| HP:0100830 | Round ear | |
| HP:0003196 | Short nose | |
| HP:0000340 | Sloping forehead | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1450
- This record as JSON: /data/d/1450.json