Ring chromosome 20 syndrome
Synonyms: Ring 20 · Ring chromosome 20
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
A rare chromosomal disorder, characterized by childhood onset drug resistant epilepsy with typical electroencephalographic findings (EEG), mild to severe intellectual disability and behavioral problems.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ring chromosome 20 syndrome | Ring 20 · Ring chromosome 20 |
| fr | Syndrome du chromosome 20 en anneau | Chromosome 20 en anneau |
| de | Ringchromosom-20-Syndrom | Ringchromosom 20 |
| es | Síndrome del cromosoma 20 en anillo | Anillo 20 · Cromosoma 20 en anillo |
| it | Sindrome cromosoma 20 ad anello | |
| nl | Ringchromosoom 20-syndroom | Ring 20 · Ringchromosoom 20 |
| pt | Síndrome do cromossoma 20 em anel | Anel do cromossoma 20 |
| pl | Chromosom pierścieniowy 20 | = en |
| cs | Ring chromozom 20 | = en |
| uk | Синдром кільцевої хромосоми 20 | Кільце 20 · Кільцева хромосома 20 |
| zh | 环状20号染色体综合征 | 环状20号染色体 |
| tr | Halka kromozom 20 sendromu | Halka 20 · Halka kromozomu 20 |
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 | 0015436 | E | validated | |
| MeSH | C580424 | E | validated | |
| UMLS | C0265482 | E | validated | |
| GARD | 1334 | 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 (2):
- ORPHA:166469Chromosomal anomaly with epilepsy as a major feature
rare genetic diseases; rare neurological diseases - 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 | 50 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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
12 annotations · validated 2024-11-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002353 | EEG abnormality | |
| HP:0032671 | Non-convulsive status epilepticus without coma | |
| Frequent (79-30%) | ||
| HP:0000708 | Atypical behavior | |
| HP:0200134 | Epileptic encephalopathy | |
| HP:0011153 | Focal motor seizure | |
| HP:0001268 | Mental deterioration | |
| HP:0031951 | Nocturnal seizures | |
| Occasional (29-5%) | ||
| HP:0001510 | Growth delay | |
| HP:0001249 | Intellectual disability | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0000736 | Short attention span | |
| HP:0001328 | Specific learning disability | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 33363513[PMID]_20972251[PMID]_22424860[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1444
- This record as JSON: /data/d/1444.json