Ring chromosome 2 syndrome
Synonyms: Ring 2 · Ring chromosome 2
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
Ring chromosome 2 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by intrauterine growth retardation, failure to thrive, developmental delay, hypotonia, mild dysmorphic features (incl. microcephaly, short forehead, upslanting palpebral fissures, hypertelorism, epicanthal folds, wide nasal bridge, broad nasal tip, long philtrum, thin upper lip, micrognathia, short neck), skeletal anomalies (e.g. kyphosis, brachydactyly, clinodactyly, talipes equinovarus) and dermatological features (i.e. café-au-lait spots). Patients may also present ventriculoseptal defects and genital abnormalities (e.g. genital hypoplasia, phimosis, cryptorchidism).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ring chromosome 2 syndrome | Ring 2 · Ring chromosome 2 |
| fr | Syndrome du chromosome 2 en anneau | Chromosome 2 en anneau |
| de | Ringchromosom-2-Syndrom | Ringchromosom 2 |
| es | Síndrome del cromosoma 2 en anillo | Anillo 2 · Cromosoma 2 en anillo |
| it | Cromosoma 2 ad anello | |
| nl | Ringchromosoom 2-syndroom | Ring 2 · Ringchromosoom 2 |
| pt | Cromossoma 2 em anel | |
| pl | Chromosom pierścieniowy 2 | = en |
| cs | Ring chromozom 2 | Kruhový chromozom 2 |
| uk | Синдром кільцевої хромосоми 2 | Кільце 2 · Кільцева хромосома 2 |
| zh | 2号环状染色体综合征 | 2号环状染色体 |
| tr | Halka kromozom 2 sendromu | Halka 2 · Halka kromozomu 2 |
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 | 0019903 | E | validated | |
| UMLS | C4707448 | E | validated | |
| GARD | 10837 | 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 | 18 cases | Worldwide | Case(s) | Validated | 25997743[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25997743[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
25 annotations · validated 2025-09-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000286 | Epicanthus | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000252 | Microcephaly | |
| HP:0008897 | Postnatal growth retardation | |
| Frequent (79-30%) | ||
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0001263 | Global developmental delay | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0000316 | Hypertelorism | |
| HP:0000343 | Long philtrum | |
| HP:0000369 | Low-set ears | |
| HP:0000347 | Micrognathia | |
| HP:0000341 | Narrow forehead | |
| HP:0001562 | Oligohydramnios | |
| HP:0000470 | Short neck | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0001671 | Abnormal cardiac septum morphology | |
| HP:0001760 | Abnormal foot morphology | |
| HP:0000729 | Autistic behavior | |
| HP:0001156 | Brachydactyly | |
| HP:0000957 | Cafe-au-lait spot | |
| HP:0000028 | Cryptorchidism | |
| HP:0001382 | Joint hypermobility | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0002650 | Scoliosis | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 25774222[PMID]_25774222[PMID]_23895799[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/96171
- This record as JSON: /data/d/96171.json