Ring chromosome 5 syndrome
Synonyms: Ring 5 · Ring chromosome 5
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
Ring chromosome 5 syndrome is a rare chromosomal anomaly syndrome, with high phenotypic variability, principally characterized by a neonatal mewing cry, severe developmental delay and intellectual disability, short stature, hypotonia, dysmorphic features (incl. microcephaly, facial asymmetry, hypertelorism, epicanthal folds, abnormal ears, micro/retrognathia), congenital cardiac anomalies (such as atrial and ventricular septal defect, tricuspid insufficiency, hypoplastic aorta) and skeletal abnormalities (e.g. hypoplastic thumbs, anomalous ulna/radius, dysplastic metacarpals and phalanges).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ring chromosome 5 syndrome | Ring 5 · Ring chromosome 5 |
| fr | Syndrome du chromosome 5 en anneau | Chromosome 5 en anneau |
| de | Ringchromosom 5-Syndrom | Ringchromosom 5 |
| es | Síndrome del cromosoma 5 en anillo | Anillo 5 · Cromosoma 5 en anillo |
| it | Cromosoma 5 ad anello | |
| nl | Ringchromosoom 5-syndroom | Ring 5 · Ringchromosoom 5 |
| pt | Cromossoma 5 em anel | |
| pl | Chromosom pierścieniowy 5 | = en |
| cs | Ring chromozom 5 | = en |
| uk | Синдром кільцевої хромосоми 5 | Кільце 5 · Кільцева хромосома 5 |
| zh | 5号环状染色体综合征 | 环状5号染色体 |
| tr | Halka kromozom 5 sendromu | Halka 5 · Halka kromozomu 5 |
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 | attributed | validated |
| MONDO | 0016654 | E | validated | |
| UMLS | C4707450 | E | validated | |
| GARD | 10841 | 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
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/251043
- This record as JSON: /data/d/251043.json