Disease & disorder
HMGB1-related brachyphalangy, polydactyly and tibial aplasia syndrome
MONDO:0700354
A complex malformation syndrome caused by variation in the HMGB1 gene. This disorder is characterised by brachydactyly, brachyphalangy of fingers, tibia aplasia or hypoplasia, polydactyly, and contractures of large joints. Patients also present microcephaly, malformed ears, and blepharophimosis. Most patients present developmental delay, hearing impairment, and genitourinary anomalies.
Outbreak surveillance
Global reported eventsExplore recent public health notices potentially related to HMGB1-related brachyphalangy, polydactyly and tibial aplasia syndrome. Results are keyword matches, not yet verified disease-to-outbreak relationships.
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Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.