oculocerebrorenal syndrome
MeSH: D009800ORPHA: 534
Overview
Human disease
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 oculocerebrorenal syndrome, sourced from HPO and Orphanet clinical annotations.
Joint hypermobilityPosteriorly rotated earsFeeding difficulties in infancyNeoplasm of the skinDecreased circulating vitamin D concentrationAbnormal circulating calcium-phosphate regulating hormone concentrationSelf-injurious behaviorBenign neoplasm of the central nervous systemInguinal herniaAzoospermiaNephrocalcinosisAbnormality of the dentitionNarrow palateOpen mouthThin upper lip vermilionGingivitisEverted lower lip vermilionMandibular prognathiaLong philtrumMicrognathiaChronic otitis mediaStrabismusMicrophthalmiaUpslanted palpebral fissureLacrimation abnormalityCarious teethDental crowdingTaurodontiaAbnormal dental enamel morphologyDelayed eruption of teethPeriodontitisAbnormal rib morphologyNephrolithiasisHematuriaDelayed pubertyIncreased circulating aldosterone concentrationDiabetes insipidusPlatyspondylyAbnormal metaphysis morphologyAtypical scarring of skinJoint stiffnessUmbilical herniaAnemiaDeep philtrumGastroesophageal refluxMalabsorptionRespiratory insufficiencyHypophosphatemiaIncreased circulating lactate concentrationRecurrent respiratory infectionsKyphosisHip dislocationGenu valgumPatellar dislocationHypercholesterolemiaFlat occiputMultiple renal cystsAbnormal epiphysis morphologyChorioretinal dysplasiaCorneal opacityTooth agenesisOligosacchariduriaOpen biteLentiglobusHypoammonemiaUrogenital fistulaOdontogenic neoplasmAtelectasisCheilitisSkin ulcerGeneralized hypopigmentationRenal insufficiencyAbnormal renal tubule morphologyProteinuriaCataractAbnormal pupil morphologyNystagmusAmblyopiaDepressionMotor stereotypyAnxietyIntellectual disabilityAreflexiaNeonatal hypotoniaAbnormality of the voiceDehydrationProximal renal tubular acidosisHypercalciuriaAphasiaHyponatremiaAminoaciduriaShort statureGlomerulopathyCryptorchidismLong faceFull cheeksProtruding earDeeply set eyeGlaucomaBuphthalmosCompulsive behaviorsHyperparathyroidismSeizureArthritisJoint swellingFailure to thriveThrombocytopeniaFrontal bossingConstipationVentriculomegalyClonusSparse scalp hairFine hairEEG abnormalityScoliosisOsteomalaciaRecurrent fracturesHypokalemiaAttention deficit hyperactivity disorder
Classification & Codes
MeSH Code
D009800Orphanet Code
ORPHA:534oculocerebrorenal syndrome
| MeSH | D009800 |
| Orphanet | ORPHA:534 |
| Treatments | 0 drug(s) |
| Symptoms on record | 119 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO