Cleidocranial Dysplasia

"Cleidocranial Dysplasia" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

Autosomal dominant syndrome in which there is delayed closing of the CRANIAL FONTANELLES; complete or partial absence of the collarbones (CLAVICLES); wide PUBIC SYMPHYSIS; short middle phalanges of the fifth fingers; and dental and vertebral anomalies.

Descriptor ID	D002973
MeSH Number(s)	C05.116.099.708.207 C05.660.207.207 C16.131.621.207.207
Concept/Terms	Cleidocranial Dysplasia Cleidocranial Dysplasia Cleidocranial Dysplasias Dysplasia, Cleidocranial Dysplasias, Cleidocranial Cleidocranial Digital Dysostosis Cleidocranial Digital Dysostoses Dysostoses, Cleidocranial Digital Dysostosis, Cleidocranial Digital Marie-Sainton Syndrome Marie Sainton Syndrome Syndrome, Marie-Sainton Scheuthauer-Marie-Sainton Syndrome Scheuthauer Marie Sainton Syndrome Syndrome, Scheuthauer-Marie-Sainton Cleidocranial Dysostosis Cleidocranial Dysostoses Dysostoses, Cleidocranial Dysostosis, Cleidocranial

Below are MeSH descriptors whose meaning is more general than "Cleidocranial Dysplasia".

Diseases [C]
Musculoskeletal Diseases [C05]
Bone Diseases [C05.116]
Bone Diseases, Developmental [C05.116.099]
Osteochondrodysplasias [C05.116.099.708]
Cleidocranial Dysplasia [C05.116.099.708.207]
Musculoskeletal Abnormalities [C05.660]
Craniofacial Abnormalities [C05.660.207]
Cleidocranial Dysplasia [C05.660.207.207]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Congenital Abnormalities [C16.131]
Musculoskeletal Abnormalities [C16.131.621]
Craniofacial Abnormalities [C16.131.621.207]
Cleidocranial Dysplasia [C16.131.621.207.207]

Below are MeSH descriptors whose meaning is related to "Cleidocranial Dysplasia".

Below are MeSH descriptors whose meaning is more specific than "Cleidocranial Dysplasia".

publications

Timeline | Most Recent

This graph shows the total number of publications written about "Cleidocranial Dysplasia" by people in this website by year, and whether "Cleidocranial Dysplasia" was a major or minor topic of these publications.

Bar chart showing 8 publications over 7 distinct years, with a maximum of 2 publications in 2008

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
2006	1	0	1
2008	2	0	2
2010	1	0	1
2013	0	1	1
2014	0	1	1
2019	0	1	1
2020	0	1	1

Below are the most recent publications written about "Cleidocranial Dysplasia" by people in Profiles.

Kim JM, Yang YS, Park KH, Ge X, Xu R, Li N, Song M, Chun H, Bok S, Charles JF, Filhol-Cochet O, Boldyreff B, Dinter T, Yu PB, Kon N, Gu W, Takarada T, Greenblatt MB, Shim JH. A RUNX2 stabilization pathway mediates physiologic and pathologic bone formation. Nat Commun. 2020 05 08; 11(1):2289.

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Kim JM, Yang YS, Park KH, Oh H, Greenblatt MB, Shim JH. The ERK MAPK Pathway Is Essential for Skeletal Development and Homeostasis. Int J Mol Sci. 2019 Apr 12; 20(8).

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McGee-Lawrence ME, Carpio LR, Bradley EW, Dudakovic A, Lian JB, van Wijnen AJ, Kakar S, Hsu W, Westendorf JJ. Runx2 is required for early stages of endochondral bone formation but delays final stages of bone repair in Axin2-deficient mice. Bone. 2014 Sep; 66:277-86.

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Yoon WJ, Islam R, Cho YD, Woo KM, Baek JH, Uchida T, Komori T, van Wijnen A, Stein JL, Lian JB, Stein GS, Choi JY, Bae SC, Ryoo HM. Pin1-mediated Runx2 modification is critical for skeletal development. J Cell Physiol. 2013 Dec; 228(12):2377-85.

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Han MS, Kim HJ, Wee HJ, Lim KE, Park NR, Bae SC, van Wijnen AJ, Stein JL, Lian JB, Stein GS, Choi JY. The cleidocranial dysplasia-related R131G mutation in the Runt-related transcription factor RUNX2 disrupts binding to DNA but not CBF-beta. J Cell Biochem. 2010 May; 110(1):97-103.

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Lou Y, Javed A, Hussain S, Colby J, Frederick D, Pratap J, Xie R, Gaur T, van Wijnen AJ, Jones SN, Stein GS, Lian JB, Stein JL. A Runx2 threshold for the cleidocranial dysplasia phenotype. Hum Mol Genet. 2009 Feb 01; 18(3):556-68.

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Gonzalez GE, Caruso PA, Small JE, Jyung RW, Troulis MJ, Curtin HD. Craniofacial and temporal bone CT findings in cleidocranial dysplasia. Pediatr Radiol. 2008 Aug; 38(8):892-7.

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Kim HJ, Nam SH, Kim HJ, Park HS, Ryoo HM, Kim SY, Cho TJ, Kim SG, Bae SC, Kim IS, Stein JL, van Wijnen AJ, Stein GS, Lian JB, Choi JY. Four novel RUNX2 mutations including a splice donor site result in the cleidocranial dysplasia phenotype. J Cell Physiol. 2006 Apr; 207(1):114-22.

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