cleidocranial dysplasia

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Related to cleidocranial dysplasia: Gardner syndrome

clei·do·cra·ni·al dys·os·to·sis

, clidocranial dysostosis [MIM*119600]
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].

cleidocranial dysplasia

a disease that affects the development of the bones and teeth. Often associated with failure of exfoliation and eruption of teeth, the presence of unerupted supernumerary teeth, and an underdeveloped maxilla.


Pierre, French neurologist, 1853-1940.
Bamberger-Marie disease - Synonym(s): Bamberger-Marie syndrome
Bamberger-Marie syndrome - see under Bamberger, Eugen
Brissaud-Marie syndrome - see under Brissaud
Charcot-Marie-Tooth disease - see under Charcot
Debré-Marie syndrome - see under Debré
Foix-Cavany-Marie syndrome - see under Foix
Marie ataxia - obsolete term for a variety of non-Friedreich hereditary ataxias.
Marie-Leri syndrome - swelling of deformed joints.
Marie-Sainton syndrome - excessive head development. Synonym(s): cleidocranial dysplasia; cleidocranial dysostosis
Marie-Strümpell disease - Synonym(s): Strümpell-Marie disease
Marie I syndrome - Synonym(s): Menzel syndrome
Marie II syndrome - endocrine and neurologic disorders.
Nonne-Marie syndrome - Synonym(s): Menzel syndrome
Strümpell-Marie disease - see under Strümpell
References in periodicals archive ?
A RUNX2/PEBP2alpha A/CBFA1 mutation displaying impaired transactivation and Smad interaction in cleidocranial dysplasia.
A novel mutation of gene CBFA1/RUNX2 in cleidocranial dysplasia.
Mutations in the RUNX2 gene in Chinese patients with cleidocranial dysplasia.
Six novel mutations of the RUNX2 gene in Italian patients with cleidocranial dysplasia.
Cleidocranial dysplasia with severe parietal bone dysplasia: C-terminal RUNX2 mutations.
Manifestation and treatment in a cleidocranial dysplasia patient with a RUNX2 (T420I) mutation.
Diversity of supernumerary tooth formation in siblings with cleidocranial dysplasia having identical mutation in RUNX2: Possible involvement of non-genetic or epigenetic regulation.
Correlation between genotype and supernumerary tooth formation in cleidocranial dysplasia.
Bone grafting and osseointegrated implants in the treatment of cleidocranial dysplasia.
Delayed dental maturation in cleidocranial dysplasia.