Oculoauricular syndrome, Schorderet type
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Oculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis syndrome characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy) and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisures, abnormal bridge connecting the crus of the helix and the antihelix, narrow external acoustic meatus, and lobule aplasia).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Oculoauricular syndrome, Schorderet type | |
| fr | Syndrome oculo-auriculaire type Schorderet | |
| de | Okuloaurikuläres Syndrom Typ Schorderet | |
| es | Síndrome oculoauricular tipo Schorderet | |
| it | Sindrome oculoauricolare, tipo Schorderet | |
| nl | Oculo-auriculair syndroom, Schorderet-type | |
| pt | Síndrome oculoauricular, tipo Schorderet | |
| pl | Zespół oczno-uszny typu Schordereta | |
| cs | Okuloaurikulární syndrom, Schorderetův typ | |
| uk | Окулоаурикулярний синдром, тип Шордера | |
| zh | 眼耳综合征 | |
| tr | Oküloauriküler sendrom, Schorderet tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612109 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD21.0 | NTBT | attributed | validated |
| MONDO | 0012802 | E | validated | |
| UMLS | C4706592 | 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 (1):
- ORPHA:202948Syndromic microphthalmia-anophthalmia-coloboma
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HMX1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:5017 | ENSG00000215612 | 142992 | 4p16.1 | H6 family homeobox 1 | 18423520[PMID]_25574057[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 18423520[PMID]_25574057[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_18423520[PMID]_25574057[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/157962
- This record as JSON: /data/d/157962.json