Ring chromosome 9 syndrome
Synonyms: Ring 9 · Ring chromosome 9
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare autosomal anomaly characterized by variable clinical features, most commonly including developmental delay, some degree of intellectual disability, facial dysmorphism, microcephaly, congenital heart anomalies, and variable genital, limb and skeletal anomalies.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ring chromosome 9 syndrome | Ring 9 · Ring chromosome 9 |
| fr | Syndrome de chromosome 9 en anneau | Chromosome 9 en anneau |
| de | Ringchromosom-9-Syndrom | Ringchromosom 9 |
| es | Síndrome del cromosoma 9 en anillo | Anillo 9 · Cromosoma 9 en anillo |
| it | Sindrome del cromosoma 9 ad anello | |
| nl | Ringchromosoom 9-syndroom | Ring 9 · Ringchromosoom 9 |
| pt | Cromossoma 9 em anel | |
| pl | Chromosom pierścieniowy 9 | = en |
| cs | Ring chromozom 9 | Kruhový chromozom 9 |
| uk | Синдром кільцевої хромосоми 9 | Кільце 9 · Кільцева хромосома 9 |
| zh | 9号环状染色体综合征 | 9号环状染色体 |
| tr | Halka kromozom 9 sendromu | Halka 9 · Halka kromozomu 9 |
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 | 0019905 | E | validated | |
| MeSH | C538022 | E | validated | |
| UMLS | C0265430 | E | validated | |
| GARD | 1348 | 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 | 31 cases | Worldwide | Case(s) | Validated | 25722017[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25722017[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
15 annotations · validated 2025-09-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000750 | Delayed speech and language development | |
| HP:0001508 | Failure to thrive | |
| HP:0001263 | Global developmental delay | |
| HP:0001510 | Growth delay | |
| HP:0001249 | Intellectual disability | |
| HP:0000343 | Long philtrum | |
| HP:0000252 | Microcephaly | |
| HP:0000574 | Thick eyebrow | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0007483 | Depigmentation/hyperpigmentation of skin | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0001252 | Hypotonia | |
| HP:0010808 | Protruding tongue | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
Annotation source: 16158426[PMID]_23633410[PMID]_27222354[PMID]_17526969[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/96173
- This record as JSON: /data/d/96173.json