Trisomy 18p syndrome
Synonyms: Duplication 18p · Duplication of the short arm of chromosome 18 · Trisomy of the short arm of chromosome 18
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
A rare partial trisomy of the short arm of chromosome 18 manifesting with a highly variable clinical phenotype which may include variable developmental delay and intellectual disability, epilepsy, and non-specific dysmorphic features, among others.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Trisomy 18p syndrome | Duplication 18p · Duplication of the short arm of chromosome 18 · Trisomy of the short arm of chromosome 18 |
| fr | Syndrome de trisomie 18p | Duplication 18p · Trisomie du bras court du chromosome 18p |
| de | Duplikation 18p | Trisomie 18p |
| es | Síndrome de trisomía 18p | Duplicación 18p · Duplicación del brazo corto del cromosoma 18 · Trisomía del brazo corto del cromosoma 18 |
| it | Sindrome trisomia 18p | Duplicazione 18p · Trisomia del braccio corto del cromosoma 18 · Duplicazione del braccio corto del cromosoma 18 |
| nl | Trisomie 18p-syndroom | Duplicatie 18p · Korte arm van chromosoom 18 duplicatie · Korte arm van chromosoom 18 trisomie |
| pt | Trissomia 18p | Duplicação 18p |
| pl | Zespół trisomii 18p | Duplikacja 18p · Duplikacja krótkiego ramienia chromosomu 19 · Trisomia krótkiego ramienia chromosomu 18 |
| cs | Trizomie 18p | Duplikace 18p · Duplikace krátkého raménka chromozomu 18 · Trizomie krátkého raménka chromozomu 18 |
| uk | Трисомія 18р | Дуплікація 18р · Дуплікація короткого плеча хромосоми 18 · Трисомія короткого плеча хромосоми 18 |
| zh | 18号染色体短臂三体 | 18号染色体短臂重复 |
| tr | Trizomi 18p | Duplikasyon 18p · 18. kromozomun kısa kolunun trizomisi · 18. kromozomun kısa kolunun duplikasyonu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q92.2 | NTBT | attributed | validated |
| ICD-11 | LD41.H1 | E | specific | validated |
| MONDO | 0015740 | E | validated | |
| MeSH | C538307 | E | validated | |
| UMLS | C2931811 | E | validated | |
| GARD | 5323 | 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
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 25 cases | Worldwide | Case(s) | Validated | 26042156[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26042156[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
28 annotations · validated 2016-02-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000377 | Abnormal pinna morphology | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0008689 | Bilateral cryptorchidism | |
| HP:0000581 | Blepharophimosis | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0000601 | Hypotelorism | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0011800 | Midface retrusion | |
| HP:0002591 | Polyphagia | |
| HP:0000384 | Preauricular skin tag | |
| HP:0002021 | Pyloric stenosis | |
| HP:0000340 | Sloping forehead | |
| HP:0000506 | Telecanthus | |
| HP:0000233 | Thin vermilion border | |
| HP:0000430 | Underdeveloped nasal alae | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0001760 | Abnormal foot morphology | |
| HP:0001167 | Abnormality of finger | |
| HP:0000160 | Narrow mouth | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0010628 | Facial palsy | |
| HP:0002705 | High, narrow palate | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0004322 | Short stature | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 487637[PMID]_7485173[PMID]_8779322[PMID]_17330860[PMID]_5663940[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1715
- This record as JSON: /data/d/1715.json