Heart-hand syndrome
Synonyms: Atriodigital dysplasia
- Type
- Category
- Group
- Group of disorders
- Status
- active
Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Heart-hand syndrome | Atriodigital dysplasia |
| fr | Syndrome cardiomélique | Dysplasie atrio-digitale · Syndrome coeur-main · Syndrome coeur-membres |
| de | Herz-Hand-Syndrom | Dysplasie, atriodigitale |
| es | Síndrome corazón-mano | Displasia atriodigital |
| it | Sindrome cuore-mano | Displasia atriodigitale |
| nl | Hart-handsyndroom | Atriodigitale dysplasie |
| pt | Síndrome coração-mão | |
| pl | Zespół serce-ręka | Dysplazja przedsionkowo-palcowa |
| cs | Syndrom srdce-ruka | Atriodigitální dysplázie |
| uk | Синдром серце-рука | Атріодигітальна дисплазія |
| zh | 心-手综合征 | 手指发育不良 |
| tr | Kalp-el sendromu | Atriodijital displazi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0016432 | E | validated | |
| MONDO | 16432 | E | validated | |
| UMLS | C5848054 | 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 (4):
- ORPHA:404571Dysostosis of genetic origin with limb anomaly as a major feature
rare genetic diseases - ORPHA:364568Dysostosis with limb anomaly as a major feature
rare developmental anomalies during embryogenesis; rare bone diseases - ORPHA:404577Genetic syndrome with limb malformations as a major feature
rare genetic diseases - ORPHA:109009Syndrome with limb malformations as a major feature
rare developmental anomalies during embryogenesis
Children (7):
- ORPHA:2946Brachydactyly-long thumb syndrome
- ORPHA:319340Carney complex-trismus-pseudocamptodactyly syndrome
- ORPHA:1350Heart-hand syndrome type 2
- ORPHA:1342Heart-hand syndrome type 3
- ORPHA:168796Heart-hand syndrome, Slovenian type
- ORPHA:392Holt-Oram syndrome
- ORPHA:228190Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/228184
- This record as JSON: /data/d/228184.json