Acro-renal-ocular syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare syndrome of multiple congenital anomalies characterized by radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, bladder diverticula), and ophthalmological abnormalities (mainly colobomas, but also microphthalmia, ptosis, and Duane anomaly). The phenotype overlaps with other <i>SALL4</i>-related disorders including Okihiro syndrome and Holt-Oram syndrome.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acro-renal-ocular syndrome | |
| fr | Syndrome acro-réno-oculaire | |
| de | Akro-reno-okuläres Syndrom | |
| es | Síndrome acro-reno-ocular | |
| it | Sindrome acro-reno-oculare | |
| nl | Acro-renaal-oculair syndroom | |
| pt | Síndrome acro-reno-ocular | |
| pl | Zespół kończynowo-nerkowo-oczny | |
| cs | Akrorenálněokulární syndrom | |
| uk | Акро-ренально-очний синдром | |
| zh | 肩胛-肾-眼综合征 | |
| tr | Akro-renal-oküler sendrom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607323 | NTBT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| UMLS | C5848304 | 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 (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.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SALL4 | Disease-causing germline mutation(s) in | 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 | 20 families | Worldwide | Family(ies) | 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
44 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002818 | Abnormal morphology of the radius | |
| HP:0001172 | Abnormal thumb morphology | |
| HP:0006501 | Aplasia/Hypoplasia of the radius | |
| HP:0004736 | Crossed fused renal ectopia | |
| HP:0000085 | Horseshoe kidney | |
| HP:0004712 | Renal malrotation | |
| HP:0009650 | Short distal phalanx of the thumb | |
| HP:0009778 | Short thumb | |
| Frequent (79-30%) | ||
| HP:0000015 | Bladder diverticulum | |
| HP:0010059 | Broad hallux phalanx | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0003022 | Hypoplasia of the ulna | |
| HP:0000588 | Optic disc coloboma | |
| HP:0007766 | Optic disc hypoplasia | |
| HP:0001177 | Preaxial hand polydactyly | |
| HP:0004059 | Radial club hand | |
| HP:0008678 | Renal hypoplasia/aplasia | |
| HP:0001852 | Sandal gap | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0010109 | Short hallux | |
| HP:0012745 | Short palpebral fissure | |
| HP:0000486 | Strabismus | |
| HP:0001199 | Triphalangeal thumb | |
| HP:0000505 | Visual impairment | |
| Occasional (29-5%) | ||
| HP:0002251 | Aganglionic megacolon | |
| HP:0000518 | Cataract | |
| HP:0000567 | Chorioretinal coloboma | |
| HP:0000589 | Coloboma | |
| HP:0000286 | Epicanthus | |
| HP:0006101 | Finger syndactyly | |
| HP:0000316 | Hypertelorism | |
| HP:0000612 | Iris coloboma | |
| HP:0000482 | Microcornea | |
| HP:0000568 | Microphthalmia | |
| HP:0000639 | Nystagmus | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0000508 | Ptosis | |
| HP:0005792 | Short humerus | |
| HP:0001883 | Talipes | |
| HP:0001636 | Tetralogy of Fallot | |
| HP:0001770 | Toe syndactyly | |
| HP:0002948 | Vertebral fusion | |
| HP:0003422 | Vertebral segmentation defect | |
| HP:0000076 | Vesicoureteral reflux | |
Run the differential on the 8 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/959
- This record as JSON: /data/d/959.json