aphalangy-syndactyly-microcephaly syndrome
MONDO:0010882
Aphalangy-syndactyly-microcephaly is an extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability.
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.
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Verified disease and drug mappings that co-occur within the same study; not evidence of effectiveness.
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Investigated drug interventions
Aphalangy-syndactyly-microcephaly syndrome
Aphalangy-syndactyly-microcephaly syndrome is a very rare limb malformation syndrome which is characterized by agenesis of the distal phalanges (distal aphalangia), syndactyly, duplication of the fourth metatarsal, microcephaly, and mild intellectual disabilities. Only 6 cases from 4 families in Spain, Turkey and other countries have been reported in medical literature. Transmission is autosomal dominant.
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.