Split-Hand/foot Malformation 1 (SHFM1)

Split-Hand/foot Malformation 1, also known as ectrodactyly, is related to split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive and ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1. An important gene associated with Split-Hand/foot Malformation 1 is DLX5 (Distal-Less Homeobox 5), and among its related pathways/superpathways are Hair follicle development: cytodifferentiation - part 3 of 3 and Validated transcriptional targets of deltaNp63 isoforms. Affiliated tissues include bone and heart, and related phenotypes are split hand and split foot