otospondylomegaepiphyseal dysplasia, autosomal dominant
MONDO:0008490
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.
Disease research snapshot
No clinical trials have been linked to this exact normalized concept in the current published dataset. This is a coverage limitation, not evidence that the condition or medicine has never been studied. Try a synonym or browse registry-reported labels.
Numbers are derived from CureCurrent's current ClinicalTrials.gov projection and conservative MONDO/RxNorm mappings. See sources, counting rules and limitations and verify eligibility or clinical findings with the original study record.
Research intelligence
Directly mapped studies only · unique clinical trialsCurrent registry observations. Phase counts may overlap. Study start dates are not registry registration dates. Investigational interventions are not approved-treatment recommendations.
Medications under investigation
Verified disease and drug mappings that co-occur within the same study; not evidence of effectiveness.
MONDO disease family
Recruiting studies by city
Trial status
Trial phase
Study start year
Investigated drug interventions
otospondylomegaepiphyseal dysplasia, autosomal dominant
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
How to interpret this record
CureCurrent links normalized diseases, medicines, registry study labels, sponsors and research sites. A link is not the same as a finding of clinical effectiveness. Our research guides explain how to compare studies, decode RxNorm identities, and avoid over-interpreting site and trial counts. See the published database coverage for mapping completeness.
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.