Ring chromosome 19 syndrome
Synonyms: Ring 19 · Ring chromosome 19
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal
- Status
- active
Ring chromosome 19 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype that may range from normal to patients with profound intellectual disability, developmental delay, learning disability (esp. speech) and mild dysmorphism (incl. micro/macrocephaly, prominent forehead, low-set and posteriorly rotated ears, hypertelorism, high nasal bridge, prominent philtrum, retro/micrognathia). Mild hypotonia and autistic-like mannerisms (e.g. hand opening and closing, head banging) may also be associated. Other anomalies, such as cutis laxa, hearing loss, syndactyly, digital hypoplasia, and talipes equinovarus, have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ring chromosome 19 syndrome | Ring 19 · Ring chromosome 19 |
| fr | Syndrome du chromosome 19 en anneau | Chromosome 19 en anneau |
| de | Ringchromosom-19-Syndrom | Ringchromosom 19 |
| es | Síndrome del cromosoma 19 en anillo | Anillo 19 · Cromosoma 19 en anillo |
| it | Cromosoma 19 ad anello | |
| nl | Ringchromosoom 19-syndroom | Ring 19 · Ringchromosoom 19 |
| pt | Síndrome de cromossoma 19 em anel | Anel do cromossoma 19 |
| pl | Chromosom pierścieniowy 19 | = en |
| cs | Ring chromozom 19 | = en |
| uk | Синдром кільцевої хромосоми 19 | Кільце 19 · Кільцева хромосома 19 |
| zh | 19号环状染色体综合征 | 19号环状染色体 |
| tr | Halka kromozom 19 sendromu | Ring 19 · Halka kromozomu 19 |
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 | 0015435 | E | validated | |
| UMLS | C0795869 | E | validated | |
| GARD | 1333 | 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 | 10 cases | Worldwide | Case(s) | Validated | 15270770[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_15270770[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
16 annotations · validated 2025-01-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Occasional (29-5%) | ||
| HP:0000729 | Autistic behavior | |
| HP:0000973 | Cutis laxa | |
| HP:0002002 | Deep philtrum | |
| HP:0002194 | Delayed gross motor development | |
| HP:0001263 | Global developmental delay | |
| HP:0001510 | Growth delay | |
| HP:0000365 | Hearing impairment | |
| HP:0000316 | Hypertelorism | |
| HP:0001249 | Intellectual disability | |
| HP:0000369 | Low-set ears | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0011220 | Prominent forehead | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0001762 | Talipes equinovarus | |
Annotation source: 8985487[PMID]_2274494[PMID]_3233786[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1443
- This record as JSON: /data/d/1443.json