Split Hand-Foot Malformation (SHFM)

Split Hand-Foot Malformation, also known as ectrodactyly, is related to chromosome 17p13.3, telomeric, duplication syndrome and split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive. An important gene associated with Split Hand-Foot Malformation is LEF1 (Lymphoid Enhancer Binding Factor 1), and among its related pathways/superpathways are Pleural mesothelioma and Validated transcriptional targets of deltaNp63 isoforms. Affiliated tissues include bone and bone marrow, and related phenotypes are oligodactyly and finger syndactyly