Ring chromosome 6 syndrome
Synonyms: Ring 6 · Ring chromosome 6
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
Ring chromosome 6 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by prenatal/postnatal growth failure, intellectual disability, developmental delay, craniofacial dysmorphism (incl. microcephaly, microphthalmia, epicanthus, low-set and malformed ears, broad and flat nasal bridge, full lips, micrognathia), central nervous system anomalies (e.g. hydrocephalus, cortical atrophy, ventriculomegaly), short neck, and delayed bone age. Cardiac defects, limb anomalies, hip joint malformations, and seizures have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ring chromosome 6 syndrome | Ring 6 · Ring chromosome 6 |
| fr | Syndrome du chromosome 6 en anneau | Chromosome 6 en anneau |
| de | Ringchromosom-6-Syndrom | Ringchromosom 6 |
| es | Síndrome del cromosoma 6 en anillo | Anillo 6 · Cromosoma 6 en anillo |
| it | Cromosoma 6 ad anello | |
| nl | Ringchromosoom 6-syndroom | Ring 6 · Ringchromosoom 6 |
| pt | Síndrome do cromossoma 6 em anel | Anel do cromossoma 6 |
| pl | Chromosom pierścieniowy 6 | = en |
| cs | Ring chromozom 6 | = en |
| uk | Синдром кільцевої хромосоми 6 | Кільце 6 · Кільцева хромосома 6 |
| zh | 环状6号染色体综合征 | 环状6号染色体 |
| tr | Halka kromozom 6 sendromu | Halka 6 · Halka kromozomu 6 |
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 | 0015440 | E | validated | |
| MeSH | C537763 | E | validated | |
| UMLS | C0795814 | E | validated | |
| GARD | 6095 | 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 | 25 cases | Worldwide | Case(s) | Validated | 23398904[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23398904[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
11 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000286 | Epicanthus | |
| HP:0000316 | Hypertelorism | |
| HP:0002162 | Low posterior hairline | |
| HP:0000400 | Macrotia | |
| HP:0000252 | Microcephaly | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0000470 | Short neck | |
| HP:0004322 | Short stature | |
| HP:0100589 | Urogenital fistula | |
| HP:0000431 | Wide nasal bridge | |
Run the differential on the 11 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1448
- This record as JSON: /data/d/1448.json