ORPHA:870
Down syndrome
Synonyms: Trisomy 21
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
A total autosomal trisomy that is caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, neurosensorial or endocrine defects.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Down syndrome | Trisomy 21 |
| fr | Trisomie 21 | Syndrome de Down |
| de | Down-Syndrom | Trisomie 21 |
| es | Síndrome de Down | Trisomía 21 |
| it | Sindrome di Down | Trisomia 21 |
| nl | Syndroom van Down | Downsyndroom · Trisomie 21 |
| pt | Síndrome Down | Síndrome de Down · Trissomia 21 |
| pl | Zespół Downa | Trisomia 21 |
| cs | Downův syndrom | Trizomie 21 |
| uk | Синдром Дауна | Трисомія 21 |
| zh | 唐氏综合征 | 21-三体 |
| tr | Down sendromu | Trizomi 21 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 190685 | E | validated | |
| ICD-10 | Q90.0 | BTNT | specific | validated |
| ICD-10 | Q90.1 | BTNT | specific | validated |
| ICD-10 | Q90.2 | BTNT | specific | validated |
| ICD-10 | Q90.9 | BTNT | specific | validated |
| ICD-11 | LD40.0 | E | specific | validated |
| MONDO | 0008608 | E | validated | |
| MeSH | D004314 | E | validated | |
| UMLS | C0013080 | E | validated | |
| GARD | 10247 | E | validated | |
| MedDRA | 10044688 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (12):
- ORPHA:98642Chromosomal anomaly with cataract
rare genetic diseases; rare ophthalmic disorders - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:477771Rare disorder with a moyamoya angiopathy
rare genetic diseases; rare neurological diseases - ORPHA:156532Rare syndrome with cardiac malformations
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases - ORPHA:98571Secondary ectropion
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:117573Syndromic anorectal malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders - ORPHA:98574Syndromic epicanthus
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:522564Syndromic genetic keratoconus
rare genetic diseases - ORPHA:98623Syndromic keratoconus
rare ophthalmic disorders - ORPHA:98576Syndromic outer canthal malposition
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:98131Total autosomal trisomy syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
24 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 6-9 / 10 000 | 95 / 100 000 | Worldwide | Value and class | Validated | World Health Organization[OTHER] |
| Point prevalence | 1-5 / 10 000 | — | Worldwide | Class only | Validated | World Health Organization[OTHER] |
| Prevalence at birth | >1 / 1000 | 101 / 100 000 | Europe | Value and class | Validated | 33130823[PMID] |
| Point prevalence | 1-5 / 10 000 | 57 / 100 000 | Europe | Value and class | Validated | 33130823[PMID] |
| Prevalence at birth | 6-9 / 10 000 | 63.7 / 100 000 | France | Value and class | Validated | OTHERitut de Veille Sanitaire 2011[OTHER] |
| Prevalence at birth | 6-9 / 10 000 | 98.3 / 100 000 | Germany | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 6-9 / 10 000 | 70 / 100 000 | Belgium | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 6-9 / 10 000 | 74 / 100 000 | Italy | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 6-9 / 10 000 | 91.2 / 100 000 | Netherlands | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | >1 / 1000 | 110 / 100 000 | Norway | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 6-9 / 10 000 | 69 / 100 000 | Spain | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 38 / 100 000 | Portugal | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 6-9 / 10 000 | 91.6 / 100 000 | United Kingdom | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 6-9 / 10 000 | 98 / 100 000 | Switzerland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 6-9 / 10 000 | 66 / 100 000 | Poland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 59 / 100 000 | Denmark | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 44 / 100 000 | Croatia | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 6-9 / 10 000 | 75 / 100 000 | Hungary | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | >1 / 1000 | 235 / 100 000 | Ireland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | >1 / 1000 | 100 / 100 000 | Ukraine | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | >1 / 1000 | 174 / 100 000 | Japan | Value and class | Validated | 18412274[PMID] |
| Point prevalence | 6-9 / 10 000 | 66 / 100 000 | United Kingdom | Value and class | Validated | 23321618[PMID] |
| Prevalence at birth | >1 / 1000 | 126 / 100 000 | United States | Value and class | Validated | 25822844[PMID] |
| Prevalence at birth | >1 / 1000 | 130 / 100 000 | South Africa | Value and class | Validated | 9373864[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.
6
HPO phenotypes
72 annotations · validated 2023-07-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000248 | Brachycephaly | |
| HP:0001156 | Brachydactyly | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000286 | Epicanthus | |
| HP:0012368 | Flat face | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0001382 | Joint hypermobility | |
| HP:0011897 | Neutrophilia | |
| HP:0100830 | Round ear | |
| HP:0000470 | Short neck | |
| HP:0001328 | Specific learning disability | |
| HP:0000474 | Thickened nuchal skin fold | |
| HP:0000582 | Upslanted palpebral fissure | |
| Frequent (79-30%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0001871 | Abnormality of blood and blood-forming tissues | |
| HP:0010978 | Abnormality of immune system physiology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0000235 | Abnormality of the fontanelles or cranial sutures | |
| HP:0100763 | Abnormality of the lymphatic system | |
| HP:0002511 | Alzheimer disease | |
| HP:0006695 | Atrioventricular canal defect | |
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0000475 | Broad neck | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000144 | Decreased fertility | |
| HP:0000457 | Depressed nasal ridge | |
| HP:0002376 | Developmental regression | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0002247 | Duodenal atresia | |
| HP:0000158 | Macroglossia | |
| HP:0000691 | Microdontia | |
| HP:0000160 | Narrow mouth | |
| HP:0000189 | Narrow palate | |
| HP:0001513 | Obesity | |
| HP:0000194 | Open mouth | |
| HP:0001901 | Polycythemia | |
| HP:0007495 | Prematurely aged appearance | |
| HP:0010808 | Protruding tongue | |
| HP:0001852 | Sandal gap | |
| HP:0003196 | Short nose | |
| HP:0004322 | Short stature | |
| HP:0000179 | Thick lower lip vermilion | |
| HP:0001873 | Thrombocytopenia | |
| HP:0001537 | Umbilical hernia | |
| HP:0001629 | Ventricular septal defect | |
| Occasional (29-5%) | ||
| HP:0006733 | Acute megakaryocytic leukemia | |
| HP:0002251 | Aganglionic megacolon | |
| HP:0000646 | Amblyopia | |
| HP:0002023 | Anal atresia | |
| HP:0003414 | Atlantoaxial dislocation | |
| HP:0000498 | Blepharitis | |
| HP:0000518 | Cataract | |
| HP:0002608 | Celiac disease | |
| HP:0012450 | Chronic constipation | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0000823 | Delayed puberty | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0001288 | Gait disturbance | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0007328 | Impaired pain sensation | |
| HP:0000563 | Keratoconus | |
| HP:0001909 | Leukemia | |
| HP:0000545 | Myopia | |
| HP:0008678 | Renal hypoplasia/aplasia | |
| HP:0001684 | Secundum atrial septal defect | |
| HP:0001250 | Seizure | |
| HP:0008070 | Sparse hair | |
| HP:0000486 | Strabismus | |
| HP:0001636 | Tetralogy of Fallot | |
| HP:0005978 | Type II diabetes mellitus | |
| Very rare (<4-1%) | ||
| HP:0000836 | Hyperthyroidism | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 30252272[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/870
- This record as JSON: /data/d/870.json