Heart-hand syndrome type 2
historical
Synonyms: Atriodigital dysplasia type 2 · Tabatznik syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare multiple congenital anomalies/dysmorphic syndrome characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation). There have been no further descriptions in the literature since 1990.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Heart-hand syndrome type 2 | Atriodigital dysplasia type 2 · Tabatznik syndrome |
| fr | Syndrome cardiomélique type 2 | Dysplasie atrio-digitale type 2 · Syndrome coeur-main type 2 · Syndrome coeur-membres type 2 · Syndrome de Tabatznik |
| de | Herz-Hand-Syndrom Typ 2 | Tabatznik-Syndrom |
| es | Síndrome corazón-mano tipo 2 | Síndrome de Tabatznik |
| it | Sindrome cuore-mano, tipo 2 | Sindrome di Tabatznik |
| nl | Hart-handsyndroom type 2 | Atriodigitale dysplasie type 2 · Syndroom van Tabatznik |
| pt | Síndrome coração-mão tipo 2 | Síndrome Tabatznik |
| pl | Zespół serce–ręka typu 2 | Dysplazja przedsionkowo-palcowa typu 2 · Zespół Tabatznika |
| cs | Syndrom ruka-srdce, typ 2 | Atriodigitální dysplázie, typ 2 · Tabatznikův syndrom |
| uk | Синдром серце-рука, тип 2 | Атріодигітальна дисплазія 2 типу · Синдром Табачника |
| zh | 心-手综合征2型 | 心房指发育不全2型 |
| tr | Kalp-el sendromu tip 2 | Tabatznik sendromu · Atriodijital displazi tip 2 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.2 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0015284 | E | validated | |
| MeSH | C536784 | E | validated | |
| UMLS | C2931323 | E | validated | |
| GARD | 9847 | 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:101934Genetic cardiac rhythm disease
rare cardiac diseases; rare genetic diseases - ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:228184Heart-hand syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis
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 | 2 families | Worldwide | Family(ies) | Validated | 1976459[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
25 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0031095 | Abnormal humerus morphology | |
| HP:0040071 | Abnormal morphology of ulna | |
| HP:0000889 | Abnormality of the clavicle | |
| HP:0009811 | Abnormality of the elbow | |
| HP:0003043 | Abnormality of the shoulder | |
| HP:0006501 | Aplasia/Hypoplasia of the radius | |
| HP:0009601 | Aplasia/Hypoplasia of the thumb | |
| HP:0011675 | Arrhythmia | |
| HP:0001156 | Brachydactyly | |
| HP:0001387 | Joint stiffness | |
| HP:0002983 | Micromelia | |
| Frequent (79-30%) | ||
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0001161 | Hand polydactyly | |
| HP:0010044 | Short 4th metacarpal | |
| HP:0010047 | Short 5th metacarpal | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0000174 | Abnormal palate morphology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0003019 | Abnormality of the wrist | |
| HP:0009908 | Anterior creases of earlobe | |
| HP:0001555 | Asymmetry of the thorax | |
| HP:0000028 | Cryptorchidism | |
| HP:0100556 | Hemiatrophy | |
| HP:0001249 | Intellectual disability | |
| HP:0002162 | Low posterior hairline | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1350
- This record as JSON: /data/d/1350.json