ORPHA:729761
Sandestig-Stefanova syndrome
Synonyms: Microphtalmia-craniofacial dysmorphism-neurological anomalies-congenital heart defect syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Sandestig-Stefanova syndrome | Microphtalmia-craniofacial dysmorphism-neurological anomalies-congenital heart defect syndrome |
| fr | Syndrome de Sandestig-Stefanova | Syndrome de microphthalmie-anomalie craniofaciale-atteintes neurologiques-malformation cardiaque congénitale |
| de | Sandestig-Stefanova-Syndrom | Mikrophthalmie-kraniofaziale Dysmorphie-neurologische Anomalien-kongenitale Herzfehler-Syndrom |
| es | Síndrome de Sandestig-Stefanova | Síndrome de microftalmia-dismorfia craneofacial-anomalías neurológicas-cardiopatía congénita |
| it | Sindrome di Sandestig-Stefanova | Sindrome microftalmia-dismorfismi craniofacciali-anomalie neurologiche-cardiopatia congenita |
| nl | Syndroom van Sandestig-Stefanova | Microftalmie - craniofaciae dysmorfie - neurologische anomalieën - congenitaal hartdefect-syndroom |
| pt | Sandestig-Stefanova syndrome | |
| pl | Sandestig-Stefanova syndrome | = en |
| cs | Sandestig-Stefanova syndrome | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618804 | 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 (6):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:269531Other syndrome with a central nervous system malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:519272Structural developmental eye defect
rare developmental anomalies during embryogenesis; rare ophthalmic disorders - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NUP188 | Disease-causing germline mutation(s) in | Assessed | HGNC:17859 | ENSG00000095319 | 615587 | 9q34.11 | nucleoporin 188 | 40859750[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 11 cases | Worldwide | Case(s) | Validated | 36158058[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 36158058[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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/729761
- This record as JSON: /data/d/729761.json