Ring chromosome 4 syndrome
Synonyms: Syndrome r(4) · r(4) syndrome · Ring 4 · Ring chromosome 4
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
Autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent features are cleft lip and/or cleft palate, congenital cardiovascular, gastrointestinal and genitourinary system anomalies.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ring chromosome 4 syndrome | Syndrome r(4) · r(4) syndrome · Ring 4 · Ring chromosome 4 |
| fr | Syndrome du chromosome 4 en anneau | Chromosome 4 en anneau |
| de | Ringchromosom-4-Syndrom | Ringchromosom 4 |
| es | Síndrome del cromosoma 4 en anillo | Anillo 4 · Cromosoma 4 en anillo · Síndrome r(4) |
| it | Cromosoma 4 ad anello | |
| nl | Ringchromosoom 4-syndroom | Ring 4 · Ringchromosoom 4 · r(4)-syndroom |
| pt | Síndrome do cromossoma 4 em anel | Anel do cromossoma 4 |
| pl | Chromosom pierścieniowy 4 | = en |
| cs | Ring chromozom 4 | = en |
| uk | Синдром кільцевої хромосоми 4 | синдром r(4) · Кільце 4 · Кільцева хромосома 4 · Синдром r(4) |
| zh | 环状4号染色体综合征 | r(4)综合征 |
| tr | Halka kromozom 4 sendromu | Halka 4 · Sendrom r (4) · r(4) sendromu · Halka kromozomu 4 |
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 | 0015439 | E | validated | |
| MeSH | C537636 | E | validated | |
| UMLS | C0265407 | E | validated | |
| GARD | 1339 | 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 | 20 cases | Worldwide | Case(s) | Validated | 27610251[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27610251[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
4 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001171 | Split hand | |
| Frequent (79-30%) | ||
| HP:0006501 | Aplasia/Hypoplasia of the radius | |
| Occasional (29-5%) | ||
| HP:0040071 | Abnormal morphology of ulna | |
| HP:0002817 | Abnormality of the upper limb | |
Run the differential on the 1 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1447
- This record as JSON: /data/d/1447.json