ORPHA:881
Turner syndrome
Synonyms: 45,X syndrome · 45,X/46,XX syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Antenatal, Childhood, Infancy, Neonatal
- Status
- active
A rare chromosomal anomaly syndrome characterized by complete or partial loss of an X chromosome in phenotypic females, clinically manifesting with short stature, primary ovarian insufficiency as well as cardiovascular, renal, liver, autoimmune diseases, hearing loss and neurocognitive abnormalities.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Turner syndrome | 45,X syndrome · 45,X/46,XX syndrome |
| fr | Syndrome de Turner | Syndrome 45,X · Syndrome 45,X/46,XX |
| de | Turner-Syndrom | 45,X-Syndrom · 45,X/46,XX-Syndrom · UTS · Ullrich-Turner-Syndrom |
| es | Síndrome de Turner | Síndrome 45,X · Síndrome 45,X/46,XX |
| it | Sindrome di Turner | Sindrome 45,X · Sindrome 45,X/46,XX |
| nl | Syndroom van Turner | 45,X-syndroom · 45,X/46,XX-syndroom |
| pt | Síndrome Turner | Monossomia X |
| pl | Zespół Turnera | Zespół 45,X · Zespół 45,X/46,XX |
| cs | Turnerův syndrom | 45,X syndrom · 45,X/46,XX syndrom · Monozomie X |
| uk | Синдром Тернера | Синдром 45,X · Синдром 45,X/46,XX |
| zh | 特纳综合征 | 45，X/46，XX综合征 |
| tr | Turner sendromu | 45,X sendromu · 45,X / 46,XX sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q96.0 | BTNT | specific | validated |
| ICD-10 | Q96.1 | BTNT | specific | validated |
| ICD-10 | Q96.2 | BTNT | specific | validated |
| ICD-10 | Q96.3 | BTNT | specific | validated |
| ICD-10 | Q96.4 | BTNT | specific | validated |
| ICD-10 | Q96.8 | BTNT | specific | validated |
| ICD-10 | Q96.9 | BTNT | specific | validated |
| ICD-11 | LD50.0 | E | specific | validated |
| MONDO | 0019499 | E | validated | |
| MeSH | D014424 | E | validated | |
| UMLS | C0041408 | E | validated | |
| GARD | 7831 | E | validated | |
| MedDRA | 10045181 | 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:568047Disorder with multisystemic involvement and primary lymphedema
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare circulatory system diseases - ORPHA:477771Rare disorder with a moyamoya angiopathy
rare genetic diseases; rare neurological diseases - ORPHA:399877Rare female infertility due to gonadal dysgenesis
rare genetic diseases; rare infertility disorders - ORPHA:485382Rare genetic premature ovarian failure
rare genetic diseases - ORPHA:95710Rare non-acquired premature ovarian failure
rare endocrine diseases; rare gynecological and obstetric diseases - ORPHA:325546Sex chromosome difference of sex development
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases; rare endocrine diseases - ORPHA:325638Syndrome with difference of sex development of gynecological interest
rare genetic diseases; rare gynecological and obstetric diseases - ORPHA:98574Syndromic epicanthus
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:93547Syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related disorders - ORPHA:165707Syndromic urogenital tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases - ORPHA:263717X chromosome number anomaly with female phenotype syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
23 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 5.5 / 100 000 | Europe | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 1985-2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 7.5 / 100 000 | Austria | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 1985-2009[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 7.9 / 100 000 | Belgium | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 1980-2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 10.5 / 100 000 | Bulgaria | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 1996-1999[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 3.6 / 100 000 | Croatia | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 1983-2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 10.4 / 100 000 | Denmark | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 1980-2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 7.1 / 100 000 | France | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 1980-2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 8 / 100 000 | Germany | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 1987-2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 3.2 / 100 000 | Hungary | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 1998-2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 7.1 / 100 000 | Ireland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 1980-2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 3.4 / 100 000 | Italy | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 1980-2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 1.1 / 100 000 | Malta | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 1986-2009[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 14 / 100 000 | Netherlands | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 1981-2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 4.2 / 100 000 | Norway | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 1999-2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 3.6 / 100 000 | Poland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 1999-2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 2.8 / 100 000 | Portugal | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 1990-2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 2.8 / 100 000 | Spain | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 1980-2009[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 22.4 / 100 000 | Switzerland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 1989-2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 10.1 / 100 000 | United Kingdom | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 1980-2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 2.3 / 100 000 | Ukraine | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2005-2010[OTHER] |
| Prevalence at birth | 6-9 / 10 000 | 70 / 100 000 | Japan | Value and class | Not yet validated | ISBN:444897208[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 42.5 / 100 000 | Singapore | Value and class | Validated | 19551311[PMID] |
| Point prevalence | 1-5 / 10 000 | — | 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
115 annotations · validated 2023-08-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0040072 | Abnormal forearm bone morphology | |
| HP:0000137 | Abnormality of the ovary | |
| HP:0006709 | Aplasia/Hypoplasia of the nipples | |
| HP:0002967 | Cubitus valgus | |
| HP:0000823 | Delayed puberty | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0100625 | Enlarged thorax | |
| HP:0008222 | Female infertility | |
| HP:0000133 | Gonadal dysgenesis | |
| HP:0001510 | Growth delay | |
| HP:0003492 | High urinary gonadotropins (primary hypogonadism) | |
| HP:0000837 | Increased circulating gonadotropin level | |
| HP:0012774 | Increased upper to lower segment ratio | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000938 | Osteopenia | |
| HP:0000939 | Osteoporosis | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0008209 | Premature ovarian insufficiency | |
| HP:0000470 | Short neck | |
| HP:0004322 | Short stature | |
| HP:0000879 | Short sternum | |
| HP:0006610 | Wide intermamillary distance | |
| Frequent (79-30%) | ||
| HP:0007477 | Abnormal dermatoglyphics | |
| HP:0001999 | Abnormal facial shape | |
| HP:0000739 | Anxiety | |
| HP:0000708 | Atypical behavior | |
| HP:0000475 | Broad neck | |
| HP:0005689 | Dermatoglyphic ridges abnormal | |
| HP:0005113 | Dilatation of the aortic arch | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0006438 | Enlargement of the distal femoral epiphysis | |
| HP:0001531 | Failure to thrive in infancy | |
| HP:0002857 | Genu valgum | |
| HP:0001952 | Glucose intolerance | |
| HP:0000872 | Hashimoto thyroiditis | |
| HP:0000365 | Hearing impairment | |
| HP:0001397 | Hepatic steatosis | |
| HP:0000218 | High palate | |
| HP:0002705 | High, narrow palate | |
| HP:0010510 | Hypermobility of toe joints | |
| HP:0000822 | Hypertension | |
| HP:0001800 | Hypoplastic toenails | |
| HP:0000758 | Impaired use of nonverbal behaviors | |
| HP:0006456 | Irregular proximal tibial epiphyses | |
| HP:0002808 | Kyphosis | |
| HP:0002162 | Low posterior hairline | |
| HP:0000369 | Low-set ears | |
| HP:0000347 | Micrognathia | |
| HP:0009759 | Neck pterygia | |
| HP:0001513 | Obesity | |
| HP:0000786 | Primary amenorrhea | |
| HP:0000403 | Recurrent otitis media | |
| HP:0000278 | Retrognathia | |
| HP:0000869 | Secondary amenorrhea | |
| HP:0000914 | Shield chest | |
| HP:0010044 | Short 4th metacarpal | |
| HP:0010047 | Short 5th metacarpal | |
| HP:0001328 | Specific learning disability | |
| HP:0000474 | Thickened nuchal skin fold | |
| HP:0000465 | Webbed neck | |
| Occasional (29-5%) | ||
| HP:0001231 | Abnormal fingernail morphology | |
| HP:0000377 | Abnormal pinna morphology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0001596 | Alopecia | |
| HP:0009118 | Aplasia/Hypoplasia of the mandible | |
| HP:0001631 | Atrial septal defect | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000987 | Atypical scarring of skin | |
| HP:0002960 | Autoimmunity | |
| HP:0001647 | Bicuspid aortic valve | |
| HP:0002608 | Celiac disease | |
| HP:0002611 | Cholestatic liver disease | |
| HP:0001680 | Coarctation of aorta | |
| HP:0000476 | Cystic hygroma | |
| HP:0012434 | Delayed social development | |
| HP:0000716 | Depression | |
| HP:0000086 | Ectopic kidney | |
| HP:0000286 | Epicanthus | |
| HP:0001395 | Hepatic fibrosis | |
| HP:0001385 | Hip dysplasia | |
| HP:0000085 | Horseshoe kidney | |
| HP:0001812 | Hyperconvex fingernails | |
| HP:0000842 | Hyperinsulinemia | |
| HP:0003186 | Inverted nipples | |
| HP:0001004 | Lymphedema | |
| HP:0003067 | Madelung deformity | |
| HP:0000995 | Melanocytic nevus | |
| HP:0001658 | Myocardial infarction | |
| HP:0000545 | Myopia | |
| HP:0003764 | Nevus | |
| HP:0005603 | Numerous congenital melanocytic nevi | |
| HP:0000767 | Pectus excavatum | |
| HP:0001763 | Pes planus | |
| HP:0001657 | Prolonged QT interval | |
| HP:0000508 | Ptosis | |
| HP:0004349 | Reduced bone mineral density | |
| HP:0002650 | Scoliosis | |
| HP:0001831 | Short toe | |
| HP:0011307 | Splayed toes | |
| HP:0000486 | Strabismus | |
| HP:0100646 | Thyroiditis | |
| HP:0005978 | Type II diabetes mellitus | |
| HP:0001045 | Vitiligo | |
| Very rare (<4-1%) | ||
| HP:0002647 | Aortic dissection | |
| HP:0005294 | Arterial dissection | |
| HP:0002613 | Biliary cirrhosis | |
| HP:0001394 | Cirrhosis | |
| HP:0000471 | Gastrointestinal angiodysplasia | |
| HP:0004386 | Gastrointestinal inflammation | |
| HP:0000150 | Gonadoblastoma | |
| HP:0004383 | Hypoplastic left heart | |
| HP:0002037 | Inflammation of the large intestine | |
| HP:0002861 | Melanoma | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0008678 | Renal hypoplasia/aplasia | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 30560013[PMID]_28705803[PMID]_17047017[PMID]_22707402[PMID]_25517026[PMID]_25438673[PMID]_27008889[PMID]_25573747[PMID]_26039527[PMID]_26874361[PMID]_26744895[PMID]_20594638[PMID]_22802424[PMID]_23603786[PMID]_24731013[PMID]_14752843[PMID]_23173989[PMID]_18839441[PMID]_17873120[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/881
- This record as JSON: /data/d/881.json