Ectrodactyly

About the Disease
Isolated Split Hand-Split Foot Malformation, also known as ectrodactyly, is related to split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive and ankyloblepharon-ectodermal defects-cleft lip/palate. An important gene associated with Isolated Split Hand-Split Foot Malformation is DLX5 (Distal-Less Homeobox 5), and among its related pathways/superpathways are Signaling by WNT and MECP2 and associated Rett syndrome. Affiliated tissues include bone, bone marrow and heart, and related phenotypes are oligodactyly and finger syndactyly

Common Targets
FGFR1

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