Ring chromosome 1 syndrome
Synonyms: Ring 1 · Ring chromosome 1 · r(1) syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
Ring chromosome 1 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ring chromosome 1 syndrome | Ring 1 · Ring chromosome 1 · r(1) syndrome |
| fr | Syndrome du chromosome 1 en anneau | Chromosome 1 en anneau · Syndrome r(1) |
| de | Ringchromosom-1-Syndrom | Ringchromosom 1 |
| es | Síndrome del cromosoma 1 en anillo | Anillo 1 · Cromosoma 1 en anillo · Síndrome r(1) |
| it | Cromosoma 1 ad anello | |
| nl | Ringchromosoom 1-syndroom | Ring 1 · Ringchromosoom 1 · r(1)-syndroom |
| pt | Síndrome do cromossoma 1 em anel | Anel do cromossoma 1 |
| pl | Chromosom pierścieniowy 1 | = en |
| cs | Ring chromozom 1 | = en |
| uk | Синдром кільцевої хромосоми 1 | синдром r(1) · Кільце 1 · Кільцева хромосома 1 |
| zh | 环状1号染色体综合征 | r(1)综合征 |
| tr | Halka kromozom 1 sendromu | Halka 1 · r(1) sendromu · Halka kromozomu 1 |
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 | 0015430 | E | validated | |
| MeSH | C535361 | E | validated | |
| UMLS | C0265395 | E | validated | |
| GARD | 1320 | 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 | 35 cases | Worldwide | Case(s) | Validated | 17710876[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_17710876[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
13 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010720 | Abnormal hair pattern | |
| HP:0000463 | Anteverted nares | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0100543 | Cognitive impairment | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0000343 | Long philtrum | |
| HP:0000252 | Microcephaly | |
| HP:0000508 | Ptosis | |
| HP:0000311 | Round face | |
| HP:0000506 | Telecanthus | |
| HP:0000431 | Wide nasal bridge | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1437
- This record as JSON: /data/d/1437.json