ORPHA:3380
Trisomy 18 syndrome
Synonyms: Chromosome 18 duplication · Edwards syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare chromosomal abnormality characterized by the presence of an extra chromosome 18 material and manifesting with severe intellectual disability growth delay, and extremely variable multiple congenital anomalies, including minor malformations (cranio-facial dysmorphia, short sternum, overlapping fingers) and major malformations, especially cardiac and cerebral. Neurological involvement may lead to seizures and hypotonia.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Trisomy 18 syndrome | Chromosome 18 duplication · Edwards syndrome |
| fr | Syndrome de trisomie 18 | Duplication du chromosome 18 · Syndrome d'Edwards |
| de | Trisomie 18 | Chromosom 18-Duplikation · Edwards-Syndrom |
| es | Síndrome de trisomía 18 | Duplicación del cromosoma 18 · Síndrome de Edwards |
| it | Sindrome trisomia 18 | Duplicazione del cromosoma 18 · Sindrome di Edwards |
| nl | Trisomie 18-syndroom | Chromosoom 18-duplicatie · Syndroom van Edwards |
| pt | Síndrome trissomia 18 | Duplicação 18 |
| pl | Zespół trisomii chromosomu 18 | Duplikacja chromosomu 18 · Zespół Edwardsa |
| cs | Trizomie 18 | Duplikace chromozomu 18 · Edwardsův syndrom |
| uk | Трисомія 18 | Дуплікація хромосоми 18 · Синдром Едвардса |
| zh | 18号染色体三体 | 18号染色体三体 |
| tr | Trizomi 18 | Edwards sendromu · Kromozom 18 duplikasyonu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q91.0 | BTNT | specific | validated |
| ICD-10 | Q91.1 | BTNT | specific | validated |
| ICD-10 | Q91.2 | BTNT | specific | validated |
| ICD-10 | Q91.3 | BTNT | specific | validated |
| ICD-11 | LD40.2 | E | specific | validated |
| MONDO | 0018071 | E | validated | |
| MeSH | D000073842 | E | validated | |
| UMLS | C4317091 | E | validated | |
| GARD | 6321 | E | validated | |
| MedDRA | 10053884 | 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 (5):
- ORPHA:98642Chromosomal anomaly with cataract
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:108979Syndromic diaphragmatic or abdominal wall malformation
rare developmental anomalies during embryogenesis; rare abdominal surgical diseases - ORPHA:93547Syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related 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
25 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 16.7 / 100 000 | Worldwide | Value and class | Not yet validated | 23088440[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 9.8 / 100 000 | Austria | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2007[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 4.4 / 100 000 | Hungary | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 25.3 / 100 000 | Ireland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 4.1 / 100 000 | Italy | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 11.4 / 100 000 | Netherlands | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 11.2 / 100 000 | Norway | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 10.4 / 100 000 | Europe | Value and class | Validated | 22713804[PMID]_EUROCAT European surveillance of congenital anomalies 2005-2009[OTHER] |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only | Validated | EUROCAT European surveillance of congenital anomalies 2005-2009[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 5.8 / 100 000 | France | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 8.9 / 100 000 | Belgium | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2009[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 5.8 / 100 000 | Germany | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 48.2 / 100 000 | Malta | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2009[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 4.4 / 100 000 | Poland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 9.5 / 100 000 | Portugal | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 1.9 / 100 000 | Spain | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 24.6 / 100 000 | Switzerland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 13 / 100 000 | United Kingdom | Value and class | Validated | 20384468 [PMID]_ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 6.5 / 100 000 | Ukraine | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 14.6 / 100 000 | Croatia | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 38.8 / 100 000 | Denmark | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2009[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 18 / 100 000 | Japan | Value and class | Validated | 2092586[PMID] |
| Point prevalence | 1-5 / 10 000 | — | Japan | Class only | Validated | 2092586[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 19.1 / 100 000 | United States | Value and class | Not yet validated | ORPHANET_18348276[PMID]_20878909[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 12.6 / 100 000 | Specific population | Value and class | Validated | 10627940[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
74 annotations · validated 2025-03-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0001631 | Atrial septal defect | |
| HP:0004326 | Cachexia | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0100543 | Cognitive impairment | |
| HP:0000028 | Cryptorchidism | |
| HP:0004097 | Deviation of finger | |
| HP:0000268 | Dolichocephaly | |
| HP:0001263 | Global developmental delay | |
| HP:0001510 | Growth delay | |
| HP:0000316 | Hypertelorism | |
| HP:0001276 | Hypertonia | |
| HP:0001252 | Hypotonia | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000308 | Microretrognathia | |
| HP:0000189 | Narrow palate | |
| HP:0003275 | Narrow pelvis bone | |
| HP:0001539 | Omphalocele | |
| HP:0100810 | Pointed helix | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000269 | Prominent occiput | |
| HP:0004322 | Short stature | |
| HP:0000325 | Triangular face | |
| HP:0001629 | Ventricular septal defect | |
| Frequent (79-30%) | ||
| HP:0000008 | Abnormal morphology of female internal genitalia | |
| HP:0000235 | Abnormality of the fontanelles or cranial sutures | |
| HP:0003272 | Abnormality of the hip bone | |
| HP:0010935 | Abnormality of the upper urinary tract | |
| HP:0002023 | Anal atresia | |
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0000581 | Blepharophimosis | |
| HP:0000248 | Brachycephaly | |
| HP:0002871 | Central apnea | |
| HP:0000453 | Choanal atresia | |
| HP:0002190 | Choroid plexus cyst | |
| HP:0000175 | Cleft palate | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000286 | Epicanthus | |
| HP:0002032 | Esophageal atresia | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0100790 | Hernia | |
| HP:0000085 | Horseshoe kidney | |
| HP:0000126 | Hydronephrosis | |
| HP:0004646 | Hypoplasia of the nasal bone | |
| HP:0010880 | Increased nuchal translucency | |
| HP:0000252 | Microcephaly | |
| HP:0100335 | Non-midline cleft of the upper lip | |
| HP:0010557 | Overlapping fingers | |
| HP:0001561 | Polyhydramnios | |
| HP:0001250 | Seizure | |
| HP:0001195 | Single umbilical artery | |
| HP:0001792 | Small nail | |
| HP:0001762 | Talipes equinovarus | |
| Occasional (29-5%) | ||
| HP:0000772 | Abnormal rib morphology | |
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0002814 | Abnormality of the lower limb | |
| HP:0002817 | Abnormality of the upper limb | |
| HP:0002323 | Anencephaly | |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0006501 | Aplasia/Hypoplasia of the radius | |
| HP:0000518 | Cataract | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0002308 | Chiari malformation | |
| HP:0007957 | Corneal opacity | |
| HP:0001188 | Hand clenching | |
| HP:0001360 | Holoprosencephaly | |
| HP:0000612 | Iris coloboma | |
| HP:0000568 | Microphthalmia | |
| HP:0002021 | Pyloric stenosis | |
| HP:0000879 | Short sternum | |
| HP:0002414 | Spina bifida | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 34033359[PMID]_23088440[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3380
- This record as JSON: /data/d/3380.json