oculo-auriculo-vertebral spectrum

ORPHA: 141132

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 oculo-auriculo-vertebral spectrum, sourced from HPO and Orphanet clinical annotations.

Cross bitePreauricular skin tagLimbal dermoidHemifacial hypoplasiaMicrognathiaHearing impairmentAtresia of the external auditory canalDelayed speech and language developmentSpina bifidaScoliosisHemivertebraeMicrotiaAplasia/Hypoplasia of the maxillaAplasia/Hypoplasia of the mandibleAbnormal renal morphologyNeurodevelopmental delayHydrocephalusMicrocephalyMicrophthalmiaColobomaDental crowdingIntrauterine growth retardationPolyhydramniosAbnormal heart morphologyChiari malformationUpper airway obstructionObstructive sleep apneaAplasia/Hypoplasia of the corpus callosumAnotia

Classification & Codes

Orphanet Code

ORPHA:141132
oculo-auriculo-vertebral spectrum
OrphanetORPHA:141132
Treatments0 drug(s)
Symptoms on record29 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO