Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
historical
Synonyms: Patent arterial duct-bicuspid aortic valve-hand anomalies syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare heart-hand syndrome that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. There have been no further descriptions in the literature since 1999.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome | Patent arterial duct-bicuspid aortic valve-hand anomalies syndrome |
| fr | Syndrome de persistance du canal artériel-bicuspidie valvulaire aortique-anomalie des mains | Syndrome de persistance du canal artériel-valve aortique bicuspide-anomalie des mains |
| de | Persistierender Ducuts arteriosus-bikuspide Aortenklappe-Handanomalien-Syndrom | Offener Ductus arteriosus - bikuspide Aortenklappe - Handfehlbildungen |
| es | Síndrome de ductus arterioso persistente-válvula aórtica bicúspide-anomalías de las manos | Conducto arterioso persistente-válvula aórtica bicúspide-anomalías de las manos |
| it | Dotto arterioso pervio - valvola aortica bicuspide - anomalie della mano | Pervietà del dotto arterioso - valvola aortica bicuspide - anomalie della mano |
| nl | Persisterende ductus arteriosus - bicuspide aortaklep - handanomalieën-syndroom | Open ductus Botalli - bicuspide aortaklep - handanomalieën-syndroom |
| pt | Síndrome de ductus arteriosus patente-válvula aórtica bicúspide-anomalias das mãos | Síndrome de canal arterial patente-válvula aórtica bicúspide-anomalias das mãos |
| pl | Przetrwały przewód tętniczy - dwupłatkowa zastawka aorty - wady rąk | Przetrwały przewód tętniczy - dwupłatkowa zastawka aorty - anomalie rąk |
| cs | Syndrom zahrnující ductus arteriosus patens, bikuspidální aortální chlopeň a anomálie rukou | = en |
| uk | Синдром відкрита артеріальна протока-двостулковий аортальний клапан-аномалія розвитку верхніх кінцівок | Синдром патентованої артеріальної протоки - бікуспідального аортального клапана - аномалії рук |
| zh | 动脉导管未闭-二尖瓣主动脉瓣-手异常综合征 | 动脉导管未闭-二尖瓣主动脉瓣-手异常综合征 |
| tr | Patent duktus arteriozus-biküspid aort kapağı-el anomalileri sendromu | Patent arteriyel kanal-biküspid aort kapak-el anomalileri sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 604381 | E | validated | |
| ICD-10 | Q87.2 | NTBT | attributed | validated |
| ICD-11 | LA8Y | NTBT | attributed | validated |
| MONDO | 0011454 | E | validated | |
| UMLS | C4302746 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:228184Heart-hand syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:156532Rare syndrome with cardiac malformations
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 10533032[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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.
HPO phenotypes
8 annotations · validated 2017-09-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0005922 | Abnormal hand morphology | |
| HP:0001647 | Bicuspid aortic valve | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0005295 | Pseudocoarctation of the aorta | |
| Very frequent (99-80%) | ||
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0010047 | Short 5th metacarpal | |
| HP:0011927 | Short digit | |
| Excluded (0%) | ||
| HP:0000271 | Abnormality of the face | |
Annotation source: 10533032[PMID]_19591690[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/228190
- This record as JSON: /data/d/228190.json