Ring chromosome 17 syndrome
Synonyms: Ring 17 · Ring chromosome 17
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Childhood
- Status
- active
A rare chromosomal anomaly characterized by highly variable manifestations, ranging from a severe phenotype which presents with lissencephaly and severe intellectual disability to a milder phenotype that includes short stature, microcephaly, intellectual disability, seizures (that may be pharmacoresistant), café-au-lait spots, retinal flecks and minor facial dysmorphism, depending on the presence or absence of the Miller-Dieker critical region.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ring chromosome 17 syndrome | Ring 17 · Ring chromosome 17 |
| fr | Syndrome du chromosome 17 en anneau | Chromosome 17 en anneau |
| de | Ringchromosom 17-Syndrom | Ringchromosom 17 |
| es | Síndrome del cromosoma 17 en anillo | Anillo 17 · Cromosoma 17 en anillo |
| it | Cromosoma 17 ad anello | |
| nl | Ringchromosoom 17-syndroom | Ringchromosoom 17 · Ring 17 |
| pt | Síndrome de cromossoma 17 em anel | Cromossoma 17 em anel |
| pl | Chromosom pierścieniowy 17 | = en |
| cs | Ring chromozom 17 | = en |
| uk | Синдром кільцевої хромосоми 17 | Кільце 17 · Кільцева хромосома 17 |
| zh | 17染色体环状染色体综合征 | 17号环状染色体 |
| tr | Halka kromozom 17 sendromu | Halka 17 · Halka kromozomu 17 |
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 | 0015433 | E | validated | |
| MeSH | C538046 | E | validated | |
| UMLS | C0795863 | E | validated | |
| GARD | 4724 | 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 | 18 cases | Worldwide | Case(s) | Validated | 24393457[PMID]_25635406[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24393457[PMID]_25635406[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
18 annotations · validated 2025-06-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000957 | Cafe-au-lait spot | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| HP:0012045 | Retinal flecks | |
| HP:0001250 | Seizure | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0030084 | Clinodactyly | |
| HP:0000750 | Delayed speech and language development | |
| HP:0000286 | Epicanthus | |
| HP:0001510 | Growth delay | |
| HP:0001252 | Hypotonia | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0001339 | Lissencephaly | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0001328 | Specific learning disability | |
| HP:0001770 | Toe syndactyly | |
| HP:0000431 | Wide nasal bridge | |
Annotation source: 29456482[PMID]_37790920[PMID]_39513527[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1441
- This record as JSON: /data/d/1441.json