ORPHA:261318
Trisomy 20p syndrome
Synonyms: Dup(20p) · Duplication of 20p · Partial duplication of chromosome 20p · Partial duplication of the short arm of chromosome 20 · Partial trisomy of chromosome 20p · Partial trisomy of the short arm of chromosome 20
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Trisomy 20p syndrome | Dup(20p) · Duplication of 20p · Partial duplication of chromosome 20p · Partial duplication of the short arm of chromosome 20 · Partial trisomy of chromosome 20p · Partial trisomy of the short arm of chromosome 20 |
| fr | Syndrome de trisomie 20p | Dup(20p) · Duplication 20p · Duplication partielle du bras court du chromosome 20 · Duplication partielle du chromosome 20p · Trisomie partielle du bras court du chromosome 20 · Trisomie partielle du chromosome 20p |
| de | Trisomie 20p | Chromosom 20, partielle Duplikation des kurzen Arms · Chromosom 20p-Duplikation, partielle · Dup(20p) · Duplikation 20p · Partielle Trisomie des Chromosoms 20p · Partielle Trisomie des kurzen Arms von Chromosom 20 |
| es | Síndrome de trisomía 20p | Dup(20p) · Duplicación de 20p · Duplicación parcial del brazo corto del cromosoma 20 · Duplicación parcial del cromosoma 20p · Trisomía parcial del brazo corto del cromosoma 20 · Trisomía parcial del cromosoma 20p |
| it | Sindrome trisomia 20p | Duplicazione 20p · Dup(20p) · Duplicazione parziale del braccio corto del cromosoma 20 · Duplicazione parziale del cromosoma 20p · Trisomia parziale del braccio corto del cromosoma 20 · Trisomia parziale del cromosoma 20p |
| nl | Trisomie 20p-syndroom | Dup(20p) · Duplicatie van 20p · Partiële duplicatie van chromosoom 20p · Partiële duplicatie van de korte arm van chromosoom 20 · Partiële trisomie van chromosoom 20p · Partiële trisomie van de korte arm van chromosoom 20 |
| pt | Trissomia 20p | |
| pl | Zespół trisomii 20p | Częściowa duplikacja chromosomu 20p · Częściowa duplikacja krótkiego ramienia chromosomu 20 · Częściowa trisomia chromosomu 20p · Częściowa trisomia krótkiego ramienia chromosomu 20 · Dup(20p) · Duplikacja 20p |
| cs | Trizomie 20p | Dup(20p) · Duplikace 20p · Parciální duplikace chromozomu 20p · Parciální duplikace krátkého raménka chromozomu 20 · Parciální trizomie chromozomu 20p · Parciální trizomie krátkého raménka chromozomu 20 |
| uk | Трисомія 20p | Dup(20p) · Дуплікація 20p · Часткова дуплікація хромосоми 20p · Часткова дуплікація короткого плеча хромосоми 20 · Часткова трисомія хромосоми 20р · Часткова трисомія короткого плеча хромосоми 20 |
| zh | 20号染色体短臂三体 | 20号染色体短臂部分重复 |
| tr | Trizomi 20p | Dup(20p) · 20p'nin çoğaltılması · 20p kromozomunun kısmi trizomisi · 20p kromozomunun kısmi kopyalanması · 20. kromozomun kısa kolunun kısmi trizomisi · 20. kromozomun kısa kolunun kısmi kopyalanması |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q92.2 | NTBT | attributed | validated |
| ICD-11 | LD41.K1 | NTBT | index | validated |
| MONDO | 0016844 | E | validated | |
| MeSH | C535371 | E | validated | |
| UMLS | C2930888 | E | validated | |
| GARD | 5333 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:262692Partial duplication of chromosome 20 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 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.
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HPO phenotypes
71 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012332 | Abnormal autonomic nervous system physiology | |
| HP:0001999 | Abnormal facial shape | |
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0002916 | Abnormality of chromosome segregation | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0100543 | Cognitive impairment | |
| HP:0000293 | Full cheeks | |
| HP:0001288 | Gait disturbance | |
| HP:0100790 | Hernia | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0001252 | Hypotonia | |
| HP:0002311 | Incoordination | |
| HP:0001382 | Joint hypermobility | |
| HP:0000411 | Protruding ear | |
| HP:0000311 | Round face | |
| HP:0000470 | Short neck | |
| HP:0000574 | Thick eyebrow | |
| Frequent (79-30%) | ||
| HP:0001760 | Abnormal foot morphology | |
| HP:0000174 | Abnormal palate morphology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0003272 | Abnormality of the hip bone | |
| HP:0000463 | Anteverted nares | |
| HP:0000248 | Brachycephaly | |
| HP:0001156 | Brachydactyly | |
| HP:0002208 | Coarse hair | |
| HP:0000286 | Epicanthus | |
| HP:0006101 | Finger syndactyly | |
| HP:0000316 | Hypertelorism | |
| HP:0000023 | Inguinal hernia | |
| HP:0000294 | Low anterior hairline | |
| HP:0002162 | Low posterior hairline | |
| HP:0000400 | Macrotia | |
| HP:0000347 | Micrognathia | |
| HP:0001357 | Plagiocephaly | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0003196 | Short nose | |
| HP:0002414 | Spina bifida | |
| HP:0000486 | Strabismus | |
| HP:0001883 | Talipes | |
| HP:0100874 | Thick hair | |
| HP:0001537 | Umbilical hernia | |
| HP:0000582 | Upslanted palpebral fissure | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0100542 | Abnormal localization of kidney | |
| HP:0009738 | Abnormality of the antihelix | |
| HP:0000077 | Abnormality of the kidney | |
| HP:0000069 | Abnormality of the ureter | |
| HP:0000581 | Blepharophimosis | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0000028 | Cryptorchidism | |
| HP:0000268 | Dolichocephaly | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0004397 | Ectopic anus | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0002007 | Frontal bossing | |
| HP:0000126 | Hydronephrosis | |
| HP:0000047 | Hypospadias | |
| HP:0002808 | Kyphosis | |
| HP:0000053 | Macroorchidism | |
| HP:0000691 | Microdontia | |
| HP:0005562 | Multiple renal cysts | |
| HP:0000926 | Platyspondyly | |
| HP:0001177 | Preaxial hand polydactyly | |
| HP:0004349 | Reduced bone mineral density | |
| HP:0002650 | Scoliosis | |
| HP:0000322 | Short philtrum | |
| HP:0000319 | Smooth philtrum | |
| HP:0000233 | Thin vermilion border | |
| HP:0003422 | Vertebral segmentation defect | |
| HP:0006610 | Wide intermamillary distance | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/261318
- This record as JSON: /data/d/261318.json