Ring chromosome 18 syndrome
Synonyms: Ring 18 · Ring chromosome 18
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare autosomal anomaly characterized by variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial features and behavioral characteristics.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ring chromosome 18 syndrome | Ring 18 · Ring chromosome 18 |
| fr | Syndrome du chromosome 18 en anneau | Chromosome 18 en anneau |
| de | Ringchromosom-18-Syndrom | Ringchromosom 18 |
| es | Síndrome del cromosoma 18 en anillo | Anillo 18 · Cromosoma 18 en anillo |
| it | Cromosoma 18 ad anello | |
| nl | Ringchromosoom 18-syndroom | Ring 18 · Ringchromosoom 18 |
| pt | Síndrome do cromossoma 18 em anel | Anel do cromossoma 18 |
| pl | Zespół pierścieniowego chromosomu 18 | = en |
| cs | Ring chromozom 18 | = en |
| uk | Синдром кільцевої хромосоми 18 | Кільце 18 · Кільцева хромосома 18 |
| zh | 18号环状染色体综合征 | 18号环状染色体 |
| tr | Halka kromozom 18 sendromu | Halka 18 · Halka kromozomu 18 |
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 | 0015434 | E | validated | |
| MeSH | C538304 | E | validated | |
| UMLS | C0265475 | E | validated | |
| GARD | 6077 | 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 | 70 cases | Worldwide | Case(s) | Validated | 21333764[PMID] | |
| 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
14 annotations · validated 2024-11-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0100543 | Cognitive impairment | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| HP:0000252 | Microcephaly | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0000812 | Abnormal internal genitalia | |
| HP:0410030 | Cleft lip | |
| HP:0012448 | Delayed myelination | |
| HP:0000821 | Hypothyroidism | |
| HP:0001252 | Hypotonia | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0002463 | Language impairment | |
| HP:0001250 | Seizure | |
| HP:0001762 | Talipes equinovarus | |
Annotation source: 25635256[PMID]_33829328[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1442
- This record as JSON: /data/d/1442.json