Aphalangy-syndactyly-microcephaly syndrome is a very rare limb malformation syndrome which is characterized by agenesis of the distal phalanges (distal aphalangia), syndactyly, duplication of the fourth metatarsal, microcephaly, and mild intellectual disabilities.[1] Only 6 cases[2][3][4][5] from 4 families in Spain, Turkey and other countries[6] have been reported in medical literature. Transmission is autosomal dominant.[7]
