Ring chromosome 12 syndrome
Synonyms: Ring 12 · Ring chromosome 12
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
Ring chromosome 12 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by postnatal growth retardation, variable degrees of developmental delay and intellectual disability, microcephaly and facial dysmorphism (incl. epicanthal folds, low-set, cupped ears, prominent nose with flat nasal bridge, high arched palate, micrognathia). Skeletal abnormalities (e.g. pectus excavatum, clinodactyly), congenital heart malformations, cryptorchidism, café-au-lait spots and epilepsy have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ring chromosome 12 syndrome | Ring 12 · Ring chromosome 12 |
| fr | Syndrome du chromosome 12 en anneau | Chromosome 12 en anneau |
| de | Ringchromosom-12-Syndrom | Ringchromosom 12 |
| es | Síndrome del cromosoma 12 en anillo | Anillo 12 · Cromosoma 12 en anillo |
| it | Cromosoma 12 ad anello | |
| nl | Ringchromosoom 12-syndroom | Ring 12 · Ringchromosoom 12 |
| pt | Síndrome do cromossoma 12 em anel | Anel do cromossoma 12 |
| pl | Chromosom pierścieniowy 12 | = en |
| cs | Ring chromozom 12 | = en |
| uk | Синдром кільцевої хромосоми 12 | Кільце 12 · Кільцева хромосома 12 |
| zh | 环状12号染色体综合征 | 环状12号染色体 |
| tr | Halka kromozom 12 sendromu | Halka 12 · Halka kromozomu 12 |
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 | 0015432 | E | validated | |
| UMLS | C5201040 | E | validated | |
| GARD | 1325 | 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 | 10 cases | Worldwide | Case(s) | Validated | 17880954[PMID]_20933620[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_17880954[PMID]_20933620[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 2017-03-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0001263 | Global developmental delay | |
| HP:0001510 | Growth delay | |
| Frequent (79-30%) | ||
| HP:0007477 | Abnormal dermatoglyphics | |
| HP:0030084 | Clinodactyly | |
| HP:0000252 | Microcephaly | |
| Occasional (29-5%) | ||
| HP:0004207 | Abnormality of the 5th finger | |
| HP:0001061 | Acne | |
| HP:0003187 | Breast hypoplasia | |
| HP:0000028 | Cryptorchidism | |
| HP:0001810 | Dystrophic toenail | |
| HP:0000565 | Esotropia | |
| HP:0000807 | Glandular hypospadias | |
| HP:0001028 | Hemangioma | |
| HP:0002705 | High, narrow palate | |
| HP:0001007 | Hirsutism | |
| HP:0000821 | Hypothyroidism | |
| HP:0000369 | Low-set ears | |
| HP:0002938 | Lumbar hyperlordosis | |
| HP:0008551 | Microtia | |
| HP:0000767 | Pectus excavatum | |
| HP:0001684 | Secundum atrial septal defect | |
| HP:0001518 | Small for gestational age | |
| HP:0009656 | Symphalangism of the thumb | |
| HP:0001159 | Syndactyly | |
| HP:0000131 | Uterine leiomyoma | |
| HP:0000465 | Webbed neck | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 12599192[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1439
- This record as JSON: /data/d/1439.json