radioulnar synostosis-microcephaly-scoliosis syndrome
MONDO:0011320
An extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit.
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.
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Tsukuhara syndrome
Tsukuhara syndrome, also known as radioulnar synostosis-microcephaly-scoliosis syndrome, is an infrequently occurring genetic skeletal dysplasia which is characterized by a combination of radioulnar synostosis, microcephaly, scoliosis, short stature, and intellectual disabilities. Only 13 cases worldwide have been described in medical literature.
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.