Tetrasomy 18p syndrome
Synonyms: Isochromosome 18p
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
Tetrasomy 18p is a very rare structural chromosomal anomaly affecting multiple body systems and characterized clinically by craniofacial abnormalities, delayed development, cognitive impairment, changes in muscle tone, distinctive facial features, and rarely renal malformations.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Tetrasomy 18p syndrome | Isochromosome 18p |
| fr | Syndrome de tétrasomie 18p | = en |
| de | Tetrasomie 18p | Isochromosom 18p |
| es | Síndrome de tetrasomía 18p | Isocromosoma 18p |
| it | Sindrome tetrasomia 18p | Isocromosoma 18p |
| nl | Tetrasomie 18p-syndroom | Isochromosoom 18p |
| pt | Tetrassomia 18p | Isocromossoma 18p |
| pl | Zespół tetrasomii 18p | Izochromosom 18p |
| cs | Tetrazomie 18p | Izochromozom 18p |
| uk | Тетрасомія 18p | Ізохромосома 18p |
| zh | 18p等臂染色体 | 18短臂等臂染色体 |
| tr | Tetrazomi 18p | İzokromozom 18p |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614290 | E | validated | |
| ICD-10 | Q99.8 | NTBT | attributed | validated |
| ICD-11 | LD7Y | NTBT | index | validated |
| MONDO | 0013668 | E | validated | |
| MeSH | C538306 | E | validated | |
| UMLS | C0795868 | E | validated | |
| GARD | 35 | 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:262812Partial duplication/triplication of the short arm of chromosome 18 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only | Not yet 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
18 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002269 | Abnormality of neuronal migration | |
| HP:0000271 | Abnormality of the face | |
| HP:0000343 | Long philtrum | |
| HP:0000252 | Microcephaly | |
| Frequent (79-30%) | ||
| HP:0000286 | Epicanthus | |
| HP:0000358 | Posteriorly rotated ears | |
| Occasional (29-5%) | ||
| HP:0002571 | Achalasia | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000324 | Facial asymmetry | |
| HP:0001288 | Gait disturbance | |
| HP:0001249 | Intellectual disability | |
| HP:0001176 | Large hands | |
| HP:0000160 | Narrow mouth | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0003196 | Short nose | |
| HP:0001279 | Syncope | |
| HP:0000233 | Thin vermilion border | |
Run the differential on the 4 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3307
- This record as JSON: /data/d/3307.json