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| {{Infobox_Disease |
| | #redirect [[Cleidocranial dysplasia]] |
| Name = {{PAGENAME}} |
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| Image = |
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| Caption = |
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| DiseasesDB = 30594 |
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| ICD10 = {{ICD10|Q|74|0|q|65}} |
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| ICD9 = {{ICD9|755.59}} |
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| ICDO = |
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| OMIM = 119600 |
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| MedlinePlus = 001589 |
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| eMedicineSubj = |
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| eMedicineTopic = |
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| MeshID = D002973 |
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| }}
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| '''Cleidocranial dysostosis''' or '''Cleidocranial dysplasia''' is a [[hereditary]] [[congenital]] [[abnormality]] of humans due to [[haploinsufficiency]] caused by mutations in the [[CBFA1]] [[gene]].
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| ==Presentation==
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| It has one or more of these features:
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| *The [[collarbone]]s are partly or completely missing. If they are completely missing, the shoulders can touch each other in front of the chest.
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| *The [[fontanelle]]s of the [[skull]] are late in closing, or never close.
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| *[[Extra teeth]]
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| *[[Permanent teeth]] not erupting.
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| *Bossing (= bulging) of the [[forehead]].
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| ==Notable cases==
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| Although he has not said he has the condition, the [[comedian]] [[Emmett Furrow]] has no collarbones. [http://www.keithcomedy.com/photosView.asp?sImageID=44]
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| ==External links==
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| *http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Cleidocranial+Dysplasia
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| *http://www.cafamily.org.uk/Direct/c37.html
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| *[http://www.faces-cranio.org/Disord/CCD.htm The National Craniofacial Association]
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| *http://www.medterms.com/script/main/art.asp?articlekey=6549
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| *http://www.dental.mu.edu/oralpath/lesions/cleidocraniadys/cleidocraniadys.htm
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| *http://www.ncbi.nlm.nih.gov/books/bv.fcgi?indexed=google&rid=gene.chapter.ccd
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| *[http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=66 Medical Imaging on CCD]
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| {{Congenital malformations and deformations of musculoskeletal system}}
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| {{disease-stub}}
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| [[pl:Dysplazja obojczykowo-czaszkowa]]
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| [[fr:Dysplasie cleido cranienne]]
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| {{WikiDoc Help Menu}}
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| [[Category:Disease]]
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| [[Category:Congenital disorders]]
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