Ring chromosome 10 syndrome
Synonyms: Ring 10 · Ring chromosome 10
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Antenatal, Neonatal
- Status
- active
An autosomal anomaly characterized by variable clinical features, depending on the size and precise location of deleted chromosome segments. Most patients present with developmental delay, intellectual disability, growth retardation, microcephaly, clinodactyly, and dysmorphic features. Congenital heart disease and genitourinary anomalies were reported in some cases.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ring chromosome 10 syndrome | Ring 10 · Ring chromosome 10 |
| fr | Syndrome du chromosome 10 en anneau | Chromosome 10 en anneau |
| de | Ringchromosom-10-Syndrom | Ringchromosom 10 |
| es | Síndrome del cromosoma 10 en anillo | Anillo 10 · Cromosoma 10 en anillo |
| it | Sindrome del cromosoma 10 ad anello | Cromosoma 10 ad anello |
| nl | Ringchromosoom 10-syndroom | Ring 10 · Ringchromosoom 10 |
| pt | Síndrome do cromossoma 10 em anel | Anel do cromossoma 10 |
| pl | Chromosom pierścieniowy 10 | = en |
| cs | Ring chromozom 10 | = en |
| uk | Синдром кільцевої хромосоми 10 | Кільце 10 · Кільцева хромосома 10 |
| zh | 环状10号染色体综合征 | 环状10号染色体 |
| tr | Halka kromozom 10 sendromu | Halka 10 · Halka kromozomu 10 |
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 | 0015431 | E | validated | |
| MeSH | C538086 | E | validated | |
| UMLS | C0265438 | E | validated | |
| GARD | 1322 | 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 (3):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - 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 | 16 cases | Worldwide | Case(s) | Validated | 23247912[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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
24 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0009738 | Abnormality of the antihelix | |
| HP:0002251 | Aganglionic megacolon | |
| HP:0004326 | Cachexia | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0002007 | Frontal bossing | |
| HP:0000316 | Hypertelorism | |
| HP:0002901 | Hypocalcemia | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0009748 | Large earlobe | |
| HP:0000343 | Long philtrum | |
| HP:0000369 | Low-set ears | |
| HP:0000347 | Micrognathia | |
| HP:0000568 | Microphthalmia | |
| HP:0000767 | Pectus excavatum | |
| HP:0008678 | Renal hypoplasia/aplasia | |
| HP:0001852 | Sandal gap | |
| HP:0001250 | Seizure | |
| HP:0000470 | Short neck | |
| HP:0001182 | Tapered finger | |
| HP:0000233 | Thin vermilion border | |
| HP:0006610 | Wide intermamillary distance | |
| HP:0000431 | Wide nasal bridge | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1438
- This record as JSON: /data/d/1438.json