craniofacial dysplasia - osteopenia syndrome
MONDO:0012634
A disorder of development or morphogenesis caused by a variation in the IRX5 gene and characterized by craniofacial dysmorphism, including high-severity hypertelorism, severe myopia, upslanting palpebral fissures, brachycephaly, atypical ears, sloping shoulders, enamel hypoplasia, osteopenia with chronic fractures, sensorineural hearing loss, and intellectual disability/borderline intelligence.
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
craniofacial dysplasia - osteopenia syndrome
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.