acro-renal-ocular syndrome
ORPHA: 959
Overview
related disorders including Okihiro syndrome and Holt-Oram syndrome (see these terms). Transmission is autosomal dominant.
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with acro-renal-ocular syndrome, sourced from HPO and Orphanet clinical annotations.
Horseshoe kidneyAbnormal thumb morphologyAbnormal morphology of the radiusRenal malrotationCrossed fused renal ectopiaAplasia/Hypoplasia of the radiusShort distal phalanx of the thumbShort thumbBladder diverticulumConductive hearing impairmentSensorineural hearing impairmentStrabismusVisual impairmentOptic disc colobomaPreaxial hand polydactylyTriphalangeal thumbSandal gapHypoplasia of the ulnaRadial ray deficiencyOptic disc hypoplasiaRenal hypoplasia/aplasiaBroad hallux phalanxShort halluxShort palpebral fissureVesicoureteral refluxEpicanthusHypertelorismMicrocorneaPtosisCataractChorioretinal colobomaMicrophthalmiaColobomaIris colobomaNystagmusTetralogy of FallotToe syndactylyTalipesAganglionic megacolonVertebral fusionVertebral segmentation defectShort humerusFinger syndactylyPostnatal growth retardation
Classification & Codes
Orphanet Code
ORPHA:959acro-renal-ocular syndrome
| Orphanet | ORPHA:959 |
| Treatments | 0 drug(s) |
| Symptoms on record | 44 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO