Skip to Content

cleidocranial dysostosis

 

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].

Synonym(s): cleidocranial dysplasia, clidocranial dysplasia, craniocleidodysostosis

Further information

Always consult your healthcare provider to ensure the information displayed on this page applies to your personal circumstances.

© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.

Hide