This condition is caused by mutations in the transcription factor MafB, or V-maf musculoaponeurotic fibrosarcoma oncogene homolog B (MAFB), gene. This gene encodes a basic leucine zipper (bZIP) transcription factor. The gene is located on the long arm of chromosome 20 (20q11.2-q13.1).
Multicentric carpotarsal osteolysis syndrome
Fibrous ankylosis
Tarsal tunnel syndrome
Heel pad syndrome
Duane-radial ray syndrome
Anterior interosseous syndrome
Corneodermatoosseous syndrome
Adducted thumb syndrome