Ring chromosome 3 syndrome
Synonyms: Ring 3 · Ring chromosome 3
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
Ring chromosome 3 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by pre- and postnatal growth retardation, short stature, developmental delay, mild to severe intellectual disability, microcephaly and mild dysmorphic features (incl. triangular face, dysplastic ears, upslanting palpebral fissures, epicanthic folds, broad nasal bridge, full nasal tip, long philtrum, downturned corners of the mouth, and micro/retrognathia). Additional manifestations reported include hypotonia, mild articular limitation, hearing loss, digital anomalies (i.e. clinodacytyly, brachydactyly), café-au-lait patches and hypospadias.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ring chromosome 3 syndrome | Ring 3 · Ring chromosome 3 |
| fr | Syndrome du chromosome 3 en anneau | Chromosome 3 en anneau |
| de | Ringchromosom-3-Syndrom | Ringchromosom 3 |
| es | Síndrome del cromosoma 3 en anillo | Anillo 3 · Cromosoma 3 en anillo |
| it | Cromosoma 3 ad anello | |
| nl | Ringchromosoom 3-syndroom | Ring 3 · Ringchromosoom 3 |
| pt | Cromossoma 3 em anel | |
| pl | Chromosom pierścieniowy 3 | = en |
| cs | Ring chromozom 3 | Kruhový chromozom 3 |
| uk | Синдром кільцевої хромосоми 3 | Кільце 3 · Кільцева хромосома 3 |
| zh | 3号环状染色体综合征 | 3号环状染色体 |
| tr | Halka kromozom 3 sendromu | Halka 3 · Halka kromozomu 3 |
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 | 0019904 | E | validated | |
| UMLS | C4707449 | E | validated | |
| GARD | 10839 | 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 | 11 cases | Worldwide | Case(s) | Validated | 11491310[PMID]_27984612[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_11491310[PMID]_27984612[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 2025-09-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000252 | Microcephaly | |
| HP:0008897 | Postnatal growth retardation | |
| Frequent (79-30%) | ||
| HP:0000377 | Abnormal pinna morphology | |
| HP:0001156 | Brachydactyly | |
| HP:0030084 | Clinodactyly | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0000286 | Epicanthus | |
| HP:0001249 | Intellectual disability | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000343 | Long philtrum | |
| HP:0000308 | Microretrognathia | |
| HP:0004322 | Short stature | |
| HP:0000325 | Triangular face | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0001531 | Failure to thrive in infancy | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0000218 | High palate | |
| HP:0000047 | Hypospadias | |
| HP:0001252 | Hypotonia | |
| HP:0000508 | Ptosis | |
| HP:0000574 | Thick eyebrow | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 21849783[PMID]_7154048[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/96172
- This record as JSON: /data/d/96172.json