HMGB1-related brachyphalangy, polydactyly and tibial aplasia syndrome
Findings
No curated finding names HMGB1-related brachyphalangy, polydactyly and tibial aplasia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0700354), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HMGB1HGNC:4983
- Moderate · ClinGen · Autosomal dominant · 2026