Ring chromosome 11 syndrome
Synonyms: RC11 · Ring 11 · Ring chromosome 11 · r(11) syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and café-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ring chromosome 11 syndrome | RC11 · Ring 11 · Ring chromosome 11 · r(11) syndrome |
| fr | Syndrome du chromosome 11 en anneau | Chromosome 11 en anneau · Syndrome r(11) |
| de | Ringchromosom-11-Syndrom | RC11 · Ringchromosom 11 · r(11)-Syndrom |
| es | Síndrome del cromosoma 11 en anillo | Anillo 11 · Cromosoma 11 en anillo · RC11 · Síndrome r(11) |
| it | Sindrome del cromosoma 11 ad anello | |
| nl | Ringchromosoom 11-syndroom | RC11 · Ring 11 · Ringchromosoom 11 · r(11)-syndroom |
| pt | Cromossoma 11 em anel | |
| pl | Chromosom pierścieniowy 11 | = en |
| cs | Ring chromozom 11 | Kruhový chromozom 11 |
| uk | Синдром кільцевої хромосоми 11 | r(11) синдром · RC11 · Кільце 11 · Кільцева хромосома 11 |
| zh | 11号环状染色体综合征 | r(11)综合征 |
| tr | Halka kromozom 11 sendromu | RC11 · Halka 11 · r (11) sendromu · Halka kromozomu 11 |
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 | 0019906 | E | validated | |
| UMLS | C0265444 | E | validated | |
| GARD | 10846 | 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 | 20 cases | Worldwide | Case(s) | Validated | 26576288[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26576288[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
21 annotations · validated 2025-09-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000271 | Abnormality of the face | |
| HP:0000957 | Cafe-au-lait spot | |
| HP:0004325 | Decreased body weight | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| HP:0000252 | Microcephaly | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0030084 | Clinodactyly | |
| HP:0008665 | Clitoral hypertrophy | |
| HP:0000028 | Cryptorchidism | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001510 | Growth delay | |
| HP:0001007 | Hirsutism | |
| HP:0000047 | Hypospadias | |
| HP:0000821 | Hypothyroidism | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0002667 | Nephroblastoma | |
| HP:0001513 | Obesity | |
| HP:0000826 | Precocious puberty | |
| HP:0005590 | Spotty hypopigmentation | |
Annotation source: 22975011[PMID]_26576288[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/96175
- This record as JSON: /data/d/96175.json