Definition: a developmental disorder characterized by absence or hypoplasia of clavicles, box-shaped cranium with open sutures, frontal bossing, sutural bones, ability to oppose shoulders, and missing teeth; autosomal dominant inheritance, caused by mutation in the transcription factor gene (CBFA1) encoding core-binding factor, runt domain, alpha-subunit 1 on 6p. There is an autosomal recessive form [MIM*216330].
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