Okihiro syndrome
Synonyms: Duane-radial ray syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
A rare multiple congenital anomalies syndrome characterized by the association of uni- or bilateral radial defects, uni- or bilateral Duane anomaly (congenital limited horizontal eye movement accompanied by globe retraction which results in narrowing of the palpebral fissure), renal abnormalities, sensorineural and/or conductive hearing loss, and, less frequently, imperforate anus and scoliosis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Okihiro syndrome | Duane-radial ray syndrome |
| fr | Syndrome d'Okihiro | Syndrome de Duane-anomalie du rayon radial |
| de | Okihiro-Syndrom | Radiales Fehlbildungssyndrom mit Duane-Retraktionssyndrom |
| es | Síndrome de Okihiro | Síndrome de Duane del rayo radial |
| it | Sindrome di Okihiro | Sindrome di Duane - anomalia del raggio radiale |
| nl | Syndroom van Okihiro | Duane-radiale lijnsyndroom |
| pt | Síndrome Okihiro | |
| pl | Zespół Okihiro | Zespół anomalii Duana i kości piszczelowej |
| cs | Okihirův syndrom | Duanova anomálie s abnormalitami radiálního paprsku |
| uk | Синдром Окіхіро | Синдром Дуейна - променевого синдрому |
| zh | Okihiro综合征 | Duane-桡侧综合征 |
| tr | Okihiro sendromu | Duane-radyal ışın sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607323 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0011812 | E | validated | |
| UMLS | C1623209 | E | validated | |
| GARD | 9182 | 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 (6):
- ORPHA:98518Congenital cranial dysinnervation disorder
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - ORPHA:404574Genetic syndrome with limb reduction defects
rare genetic diseases - ORPHA:294955Syndrome with limb reduction defects
rare developmental anomalies during embryogenesis; rare bone diseases - ORPHA:117573Syndromic anorectal malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders - ORPHA:98683Syndromic disorder with strabismus
rare ophthalmic disorders - ORPHA:522520Syndromic genetic disorder with strabismus
rare genetic diseases
Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| SALL4 | ORPHA:261647Okihiro syndrome due to a point mutation | Disease-causing germline mutation(s) in | Assessed | HGNC:15924 | ENSG00000101115 | 607343 | 20q13.2 | spalt like transcription factor 4 | 16086360[PMID]_20301547[PMID] |
| SALL4 | ORPHA:261638Okihiro syndrome due to 20q13 microdeletion | Role in the phenotype of | Assessed | HGNC:15924 | ENSG00000101115 | 607343 | 20q13.2 | spalt like transcription factor 4 | 16086360[PMID]_20301547[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 125 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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/93293
- This record as JSON: /data/d/93293.json