Heart-hand syndrome type 3
historical
Synonyms: Atriodigital dysplasia type 3 · Cardiomelic syndrome type 3 · Heart-hand syndrome, Spanish type · Heart-limb syndrome type 3
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- historical
A rare multiple congenital anomalies/dysmorphic syndrome characterized by cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, affecting principally the middle phalanges of both hands, in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle. There have been no further descriptions in the literature since 1980.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Heart-hand syndrome type 3 | Atriodigital dysplasia type 3 · Cardiomelic syndrome type 3 · Heart-hand syndrome, Spanish type · Heart-limb syndrome type 3 |
| fr | Syndrome coeur-main type 3 | Dysplasie atrio-digitale type 3 · Syndrome cardiomélique type 3 · Syndrome cardiomélique type espagnol · Syndrome coeur-membres type 3 |
| de | Herz-Hand-Syndrom Typ 3 | Atriodigitale Dysplasie Typ 3 · Herz-Hand-Syndrom, spanische Form · Kardiomeles Syndrom Typ 3 |
| es | Síndrome de corazón-mano tipo 3 | Displasia atriodigital tipo 3 · Síndrome cardiomélico tipo 3 · Síndrome de corazón-extremidad tipo 3 · Síndrome de corazón-mano tipo español |
| it | Sindrome cuore-mano, tipo 3 | Displasia atriodigitale, tipo 3 · Sindrome cardiomelica, tipo 3 · Sindrome cuore-arti, tipo 3 · Sindrome cuore-mano, tipo spagnolo |
| nl | Hart-handsyndroom type 3 | Atriodigitale dysplasie type 3 · Cardiomelisch syndroom type 3 · Hart-handsyndroom, Spaans type · Hart-ledemaatsyndroom type 3 |
| pt | Síndrome coração-mão tipo 3 | Síndrome atriodigital tipo 3 · Síndrome cardiomélico tipo 3 · Síndrome coração-mão, tipo Espanhol |
| pl | Zespół serce-ręka typu 3 | Dysplazja przedsionkowo-palcowa typu 3 · Zespół serce-kończyna typu 3 · Zespół serce-ręka, typ hiszpański |
| cs | Syndrom ruka-srdce, typ 3 | Atriodigitální dysplázie, typ 3 · Kardiomelický syndrom, typ 3 · Syndrom ruka-srdce, španělský typ |
| uk | Синдром серце-рука, тип 3 | Атріодигітальна дисплазія типу 3 · Кардіомелічний синдром типу 3 · Синдром серце-рука, іспанський тип · Синдром нижніх відділів серця, тип 3 |
| zh | 心-手综合征3型 | 心-手综合征，西班牙型 |
| tr | Kalp-el sendromu tip 3 | Kalp-ekstremite sendromu tip 3 · Kardiyomelik sendrom tip 3 · Atriodijital displazi tip 3 · El kalp sendromu, İspanyol tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 140450 | E | validated | |
| ICD-10 | Q87.2 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0007702 | E | validated | |
| MeSH | C535853 | E | validated | |
| UMLS | C1841657 | E | validated | |
| GARD | 2614 | 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 | 4 cases | Worldwide | Case(s) | Validated | 7450756[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 7450756[PMID]_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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1342
- This record as JSON: /data/d/1342.json