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].
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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
Medical Eponyms © Farlex 2012
References in periodicals archive ?
Cleidocranial dysplasia: diagnostic criteria and combined treatment.
Cleidocranial dysplasia: A review of the dental, historical, and practical implications with an overview of the South African experience.
A novel mutation in the C-terminal region of RUNX2/CBFA1 distal to the DNA-binding runt domain in a Japanese patient with cleidocranial dysplasia. Int J Oral Maxillofac Surg 2011;40:434-7.
Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia. Am J Hum Genet 1999;65:1268-78.
Severe cleidocranial dysplasia and hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2.
Clinical spectrum of cleidocranial dysplasia in a family with twins.
CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia. Hum Mol Genet 1999 Nov;8(12):2311-2316.
Cleidocranial dysplasia: radiological appearances on dental panoramic radiography.
In our case, the patient did not report the existence of direct ancestors or descendents who presented any clinical characteristic of cleidocranial dysplasia. She was alerted of the inheritance characteristic of the disease and also about the genetic counseling.
Cleidocranial dysplasia: Part 1--General principles of the orthodontic and surgical treatment modality.
Cleidocranial dysplasia (CCD) is an autosomal dominant disorder with complete penetrance and variable expression.
Cleidocranial dysplasia: Report of 4 cases and review.