ORPHA:1338
Heart defect-tongue hamartoma-polysyndactyly syndrome
Synonyms: Ostravik-Lindemann-Solberg syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare, genetic, multiple congenital anomalies syndrome characterized by congenital heart defects (e.g. coarctation of the aorta with or without atrioventricular canal and subaortic stenosis), associated with tongue hamartomas, postaxial hand polydactyly and toe syndactyly.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Heart defect-tongue hamartoma-polysyndactyly syndrome | Ostravik-Lindemann-Solberg syndrome |
| fr | Syndrome d'anomalie cardiaque-hamartome de la langue-polysyndactylie | Syndrome d'Orstavik-Lindemann-Solberg |
| de | Herzfehler-Zungenhamartom-Polysyndaktylie-Syndrom | Ostravik-Lindemann-Solberg-Syndrom |
| es | Síndrome de cardiopatía-hamartomas linguales-polisindactilia | Síndrome de Ostravik-Lindemann-Solberg |
| it | Sindrome cardiopatia-amartoma della lingua-polisindattilia | Sindrome di Ostravik-Lindemann-Solberg |
| nl | Hartdefect - tonghamartoom - polysyndactylie-syndroom | Syndroom van Ostravik-Lindemann-Solberg |
| pt | Síndrome de cardiopatia-hamartoma da língua-polissindactilia | Síndrome Ostravik-Lindemann-Solberg |
| pl | Zespół wady serca, hamartomy języka i polisyndaktylii | Zespół Ostravika, Lindemanna i Solberga |
| cs | Syndrom zahrnující srdeční defekt, hamartom jazyka a polysyndaktylii | Orstavikové-Lindemannův-Solbergův syndrom · Orstavik-Lindemann-Solbergův syndrom |
| uk | Синдром вади серця-гамартоми язика-полісиндактилії | Синдром Остравіка-Ліндемана-Сольберга |
| zh | 心脏缺损-舌错构瘤-多指并指综合征 | Ostravik-Lindemann-Solberg综合征 |
| tr | Kalp defekti-dil hamartom-polisindaktili sendrom | Ostravik-Lindemann-Solberg sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 217085 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0009008 | E | validated | |
| MeSH | C535849 | E | validated | |
| UMLS | C2931046 | E | validated | |
| GARD | 4166 | 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 (2):
- ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| WDPCP | Disease-causing germline mutation(s) in | Assessed | HGNC:28027 | ENSG00000143951 | 613580 | 2p15 | WD repeat containing planar cell polarity effector | 25427950[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 25427950[PMID]_1516223[PMID]_8733055[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25427950[PMID]_1516223[PMID]_8733055[PMID] |
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
6 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011802 | Hamartoma of tongue | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0001682 | Subvalvular aortic stenosis | |
| Frequent (79-30%) | ||
| HP:0001233 | 2-3 finger syndactyly | |
| HP:0100835 | Benign neoplasm of the central nervous system | |
| HP:0000028 | Cryptorchidism | |
Run the differential on the 3 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1338
- This record as JSON: /data/d/1338.json