Ring chromosome 14 syndrome
Synonyms: Ring 14 · Ring chromosome 14
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Childhood
- Status
- active
A rare chromosomal anomalie characterized by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ring chromosome 14 syndrome | Ring 14 · Ring chromosome 14 |
| fr | Syndrome du chromosome 14 en anneau | Chromosome 14 en anneau |
| de | Ringchromosom-14-Syndrom | Ringchromosom 14 |
| es | Síndrome del cromosoma 14 en anillo | Anillo 14 · Cromosoma 14 en anillo |
| it | Cromosoma 14 ad anello | |
| nl | Ringchromosoom 14-syndroom | Ring 14 · Ringchromosoom 14 |
| pt | Síndrome de cromossoma 14 em anel | Anel do cromossoma 14 |
| pl | Chromosom pierścieniowy 14 | = en |
| cs | Ring chromozom 14 | = en |
| uk | Синдром кільцевої хромосоми 14 | Кільце 14 · Кільцева хромосома 14 |
| zh | 14号环状染色体综合征 | 14号环状染色体 |
| tr | Halka kromozom 14 sendromu | Ring 14 · Halka kromozomu 14 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616606 | E | validated | |
| ICD-10 | Q93.2 | NTBT | attributed | validated |
| ICD-11 | LD7Y | NTBT | index | validated |
| MONDO | 0014708 | E | validated | |
| MeSH | C535487 | E | validated | |
| UMLS | C2930916 | E | validated | |
| GARD | 6072 | 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 | 80 cases | Worldwide | Case(s) | Validated | 28399932[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28399932[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
21 annotations · validated 2025-01-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001249 | Intellectual disability | |
| HP:0001250 | Seizure | |
| Frequent (79-30%) | ||
| HP:0000708 | Atypical behavior | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001252 | Hypotonia | |
| HP:0025373 | Interictal EEG abnormality | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0001270 | Motor delay | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0002719 | Recurrent infections | |
| HP:0005484 | Secondary microcephaly | |
| Occasional (29-5%) | ||
| HP:0001273 | Abnormal corpus callosum morphology | |
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0000957 | Cafe-au-lait spot | |
| HP:0000518 | Cataract | |
| HP:0000501 | Glaucoma | |
| HP:0000752 | Hyperactivity | |
| HP:0000612 | Iris coloboma | |
| HP:0000545 | Myopia | |
| HP:0002650 | Scoliosis | |
| HP:0000486 | Strabismus | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 23159383[PMID]_22564756[PMID]_28399932[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1440
- This record as JSON: /data/d/1440.json