ORPHA:185
Scimitar syndrome
Synonyms: Congenital pulmonary venolobar syndrome · Epibronchial right pulmonary vein syndrome · Halasz syndrome · Hypogenetic lung syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal
- Status
- active
A rare congenital malformation characterized by a combination of cardiopulmonary anomalies including partial anomalous pulmonary venous connection of the right lung to the inferior caval vein leading to the creation of a left-to-right shunt, and varying degrees of right lung hypoplasia, along with a systemic arterial supply to the right lung.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Scimitar syndrome | Congenital pulmonary venolobar syndrome · Epibronchial right pulmonary vein syndrome · Halasz syndrome · Hypogenetic lung syndrome |
| fr | Syndrome du cimeterre | Hypogénésie pulmonaire · Syndrome de Halasz · Syndrome veinolobaire pulmonaire congénital |
| de | Scimitar-Syndrom | Anomalie der epibronchialen rechten Pulmonalarterie · Halasz-Syndrom · Hypogenetisches Lungensyndrom · Kongenitales pulmonales venolobares Syndrom |
| es | Síndrome de la cimitarra | Síndrome del pulmón hipogenético · Síndrome venolobar pulmonar congénito · Síndrome de Halasz · Síndrome de la vena pulmonar epibronquial derecha |
| it | Sindrome della scimitarra | Sindrome da ipogenesia polmonare · Sindrome di Halasz · Sindrome epibronchiale dell'arteria polmonare destra · Sindrome venolobare polmonare congenita |
| nl | Scimitar-syndroom | Congenitaal pulmonaal venolobair syndroom · Epibronchiale rechterlongader-syndroom · Hypogenetische long-syndroom · Syndroom van Halasz |
| pt | Síndrome Scimitar | Síndrome Halasz |
| pl | Zespół szabli tureckiej | Zespół Halasza |
| cs | Scimitar syndrom | Vrozený plicní venolobární syndrom · Syndrom pravé epibronchiální plicní tepny (žíly) · Syndrom hypogenetické plíce · Halaszův syndrom |
| uk | Scimitar синдром у складі вродженої вади серця з аномальним дренажем легеневих вен | Вроджений синдром легеневого веноблокатора · Синдром епібронхіальної правої легеневої вени · Синдром Халаша · Гіпогенетичний синдром легень |
| zh | 弯刀综合征 | 右肺支气管旁静脉综合征 |
| tr | Scimitar sendromu | Halasz sendromu · Hipogenetik akciğer sendromu · Doğumsal pulmoner venolobar sendromu · Epibronşiyal sağ pulmoner ven sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q26.8 | NTBT | inclusion | validated |
| ICD-11 | LA86.22 | E | specific | validated |
| MONDO | 0015987 | E | validated | |
| MeSH | D012587 | E | validated | |
| UMLS | C0036400 | E | validated | |
| MedDRA | 10051951 | 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 (3):
- ORPHA:98724Congenital anomaly of the great arteries
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare circulatory system diseases - ORPHA:98729Congenital pulmonary veins anomaly
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare circulatory system diseases - ORPHA:182111Respiratory malformation
rare respiratory diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 2 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Point prevalence | Unknown | — | Worldwide | 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
39 annotations · validated 2019-05-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0001627 | Abnormal heart morphology | |
| HP:0002088 | Abnormal lung morphology | |
| HP:0005345 | Abnormal vena cava morphology | |
| HP:0001631 | Atrial septal defect | |
| HP:0001680 | Coarctation of aorta | |
| HP:0001635 | Congestive heart failure | |
| HP:0001651 | Dextrocardia | |
| HP:0004971 | Pulmonary artery hypoplasia | |
| HP:0002089 | Pulmonary hypoplasia | |
| HP:0001629 | Ventricular septal defect | |
| Occasional (29-5%) | ||
| HP:0040045 | Abnormal hemidiaphragm morphology | |
| HP:0010772 | Anomalous pulmonary venous return | |
| HP:0100730 | Bronchogenic cyst | |
| HP:0012735 | Cough | |
| HP:0025495 | Descending aorta hypoplasia | |
| HP:0001719 | Double outlet right ventricle | |
| HP:0100790 | Hernia | |
| HP:0040044 | Hypoplasia of the diaphragm | |
| HP:0004383 | Hypoplastic left heart | |
| HP:0012382 | Left-to-right shunt | |
| HP:0011560 | Mitral atresia | |
| HP:0010773 | Partial anomalous pulmonary venous return | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0100632 | Pulmonary sequestration | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0002098 | Respiratory distress | |
| HP:0001750 | Single ventricle | |
| HP:0001636 | Tetralogy of Fallot | |
| Very rare (<4-1%) | ||
| HP:0000119 | Abnormality of the genitourinary system | |
| HP:0000925 | Abnormality of the vertebral column | |
| HP:0011638 | Anomalous origin of left coronary artery from the pulmonary artery | |
| HP:0012722 | Heart block | |
| HP:0011671 | Interrupted inferior vena cava with azygous continuation | |
| HP:0011670 | Left superior vena cava draining to coronary sinus | |
| HP:0002107 | Pneumothorax | |
| HP:0011662 | Tricuspid atresia | |
| HP:0001660 | Truncus arteriosus | |
Annotation source: 29398566[PMID]_28674724[PMID]_29054305[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/185
- This record as JSON: /data/d/185.json