rapadilino syndrome
MONDO:0009955
RAPADILINO syndrome is a syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence.
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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.
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Verified disease and drug mappings that co-occur within the same study; not evidence of effectiveness.
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RAPADILINO syndrome
RAPADILINO syndrome is an autosomal recessive disorder characterized by: RA: radial ray defect PA: patellar aplasia, arched or cleft palate DI: diarrhea, dislocated joints LI: little (short stature), limb malformation NO: slender nose, normal intelligence It is more prevalent in Finland than elsewhere in the world. It has been associated with the gene RECQL4. This is also associated with Rothmund–Thomson syndrome and Baller–Gerold 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.