Acrootoocular syndrome
MeSH: C564866ORPHA: 2980
Overview
Acro-oto-ocular syndrome is a very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies
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 Acrootoocular syndrome, sourced from HPO and Orphanet clinical annotations.
MicrocephalyEpicanthusAbnormality of facial musculatureMicrognathiaAbnormal earlobe morphologyLow-set earsConductive hearing impairmentSensorineural hearing impairmentAtresia of the external auditory canalDownslanted palpebral fissuresPseudopapilledemaBlepharophimosisHypotelorismAnodontiaGrayish enamelDelayed eruption of teethDental malocclusionPectus excavatumDecreased response to growth hormone stimulation testSmall thenar eminenceFailure to thriveSmall for gestational ageShort footShort toeSandal gapHigh, narrow palateDelayed skeletal maturationKyphoscoliosisShort statureAbnormal finger flexion creaseDecreased palmar creasesHyperpigmented neviShort fingerShort metacarpalSmall hypothenar eminencePalmar hyperkeratosisSupernumerary toothProminent calcaneusCutaneous syndactylyWide nasal baseChoking episodes
Classification & Codes
MeSH Code
C564866Orphanet Code
ORPHA:2980Acrootoocular syndrome
| MeSH | C564866 |
| Orphanet | ORPHA:2980 |
| Treatments | 0 drug(s) |
| Symptoms on record | 41 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO