ORPHA:656135
Intellectual disability-cupped ears syndrome
Synonyms: Snijders Blok-Fisher syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
A rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability (ranging from mild to severe), speech delay or speech disorder and cupped and/or low-set ears. Patients may also have brain abnormalities, hypotonia, drooling and vision problems. Seizures and sleep disturbance were reported for some patients.
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Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Intellectual disability-cupped ears syndrome | Snijders Blok-Fisher syndrome |
| fr | Syndrome de déficience intellectuelle-oreilles en coupe | Syndrome de Snijers Blok-Fisher |
| de | Syndrom der Intelligenzminderung mit Ohrmuschel-Fehlbildung | Snijders-Blok-Fisher-Syndrom |
| es | Síndrome de discapacidad intelectual-orejas en copa | Síndrome de Snijders Blok-Fisher |
| it | Sindrome disabilità intellettiva-orecchie a coppa | Sindrome di Snijders Blok-Fisher |
| nl | Intellectuele achterstand - komvormige oren-syndroom | Syndroom van Snijders Blok-Fisher |
| pt | Síndrome de perturbação do desenvolvimento intelectual-orelhas dobradas | Síndrome Snijders Blok-Fisher |
| pl | Zespół niepełnosprawność intelektualna - zwinięte uszy | = en |
| cs | Syndrom zahrnující mentální retardaci a kornoutovité ušní boltce | = en |
| uk | Синдром інтелектуальної недостатності-чашеподібних вух | Синдром Снейдерса-Блока-Фішера |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618604 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0032830 | E | validated | |
| MONDO | 32830 | E | validated | |
| UMLS | C5231424 | 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: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
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| POU3F3 | Disease-causing germline mutation(s) in | Assessed | HGNC:9216 | ENSG00000198914 | 602480 | 2q12.1 | POU class 3 homeobox 3 | 31303265[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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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/656135
- This record as JSON: /data/d/656135.json