ORPHA:3378
Trisomy 13 syndrome
Synonyms: Patau syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare chromosomal anomaly characterized by the presence of extra chromosome 13 material and manifesting with severe intellectual disability and multiple congenital anomalies including holoprosencephaly, microcephaly, microphthalmia, scalp defect, cleft lip/palate, congenital heart defects, and postaxial polydactyly. Neurological involvement may lead to seizures and hypotonia.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Trisomy 13 syndrome | Patau syndrome |
| fr | Syndrome de trisomie 13 | Syndrome de Patau |
| de | Trisomie 13 | Pätau-Syndrom |
| es | Síndrome de trisomía 13 | Síndrome de Patau |
| it | Sindrome trisomia 13 | Sindrome di Patau |
| nl | Trisomie 13-syndroom | Syndroom van Patau |
| pt | Síndrome trissomia 13 | |
| pl | Zespół trisomii chromosomu 13 | Zespół Patau'a |
| cs | Trizomie 13 | Patauův syndrom |
| uk | Трисомія 13 | Синдром Патау |
| zh | 13号染色体三体 | Patau综合征 |
| tr | Trizomi 13 | Patau sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q91.4 | BTNT | specific | validated |
| ICD-10 | Q91.5 | BTNT | specific | validated |
| ICD-10 | Q91.6 | BTNT | specific | validated |
| ICD-10 | Q91.7 | BTNT | specific | validated |
| ICD-11 | LD40.1 | E | specific | validated |
| MONDO | 0018068 | E | validated | |
| MeSH | D000073839 | E | validated | |
| UMLS | C2936830 | E | validated | |
| GARD | 7341 | E | validated | |
| MedDRA | 10044686 | 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
21 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 3.7 / 100 000 | Europe | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2005-2009[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 2.9 / 100 000 | Belgium | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 4.8 / 100 000 | Germany | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2007[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 7.2 / 100 000 | Ireland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 24.1 / 100 000 | Malta | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2009[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 4.8 / 100 000 | Norway | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 2.2 / 100 000 | Poland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 5 / 100 000 | United Kingdom | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 3.3 / 100 000 | Ukraine | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 18 / 100 000 | Japan | Value and class | Validated | 2092586[PMID]_7424972[PMID] |
| Point prevalence | 1-5 / 10 000 | 15.9 / 100 000 | Japan | Value and class | Not yet validated | 2092586[PMID]_7424972[PMID]_ ORPHANET |
| Prevalence at birth | 1-5 / 10 000 | 12.6 / 100 000 | United States | Value and class | Validated | 20878909[PMID]_Center for Diseases Control and Prevention[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 1.9 / 100 000 | France | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 9.8 / 100 000 | Austria | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2009[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 1.1 / 100 000 | Hungary | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 1.4 / 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 | 1-9 / 100 000 | 5.2 / 100 000 | Portugal | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2008[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 2.5 / 100 000 | Spain | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 13.2 / 100 000 | Switzerland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2007[OTHER] |
| 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.
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HPO phenotypes
59 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0002644 | Abnormality of pelvic girdle bone morphology | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0000235 | Abnormality of the fontanelles or cranial sutures | |
| HP:0000528 | Anophthalmia | |
| HP:0001631 | Atrial septal defect | |
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0000175 | Cleft palate | |
| HP:0100543 | Cognitive impairment | |
| HP:0000476 | Cystic hygroma | |
| HP:0001789 | Hydrops fetalis | |
| HP:0000601 | Hypotelorism | |
| HP:0001252 | Hypotonia | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000369 | Low-set ears | |
| HP:0000272 | Malar flattening | |
| HP:0000161 | Median cleft lip | |
| HP:0000568 | Microphthalmia | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0001162 | Postaxial hand polydactyly | |
| HP:0001250 | Seizure | |
| HP:0011344 | Severe global developmental delay | |
| HP:0001629 | Ventricular septal defect | |
| Frequent (79-30%) | ||
| HP:0007477 | Abnormal dermatoglyphics | |
| HP:0000499 | Abnormal eyelash morphology | |
| HP:0011039 | Abnormal helix morphology | |
| HP:0002101 | Abnormal lung lobation | |
| HP:0000008 | Abnormal morphology of female internal genitalia | |
| HP:0008046 | Abnormal retinal vascular morphology | |
| HP:0000772 | Abnormal rib morphology | |
| HP:0009738 | Abnormality of the antihelix | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0000478 | Abnormality of the eye | |
| HP:0000370 | Abnormality of the middle ear | |
| HP:0000069 | Abnormality of the ureter | |
| HP:0000504 | Abnormality of vision | |
| HP:0008053 | Aplasia/Hypoplasia of the iris | |
| HP:0005306 | Capillary hemangioma | |
| HP:0000518 | Cataract | |
| HP:0002308 | Chiari malformation | |
| HP:0000028 | Cryptorchidism | |
| HP:0000490 | Deeply set eye | |
| HP:0100627 | Displacement of the urethral meatus | |
| HP:0100257 | Ectrodactyly | |
| HP:0100790 | Hernia | |
| HP:0002705 | High, narrow palate | |
| HP:0000126 | Hydronephrosis | |
| HP:0000612 | Iris coloboma | |
| HP:0002808 | Kyphosis | |
| HP:0000343 | Long philtrum | |
| HP:0005562 | Multiple renal cysts | |
| HP:0000774 | Narrow chest | |
| HP:0000648 | Optic atrophy | |
| HP:0004467 | Preauricular pit | |
| HP:0000384 | Preauricular skin tag | |
| HP:0002650 | Scoliosis | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0001362 | Skull defect | |
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/3378
- This record as JSON: /data/d/3378.json