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Cleidocranial Dysplasia (Cleidocranial Dysostosis)

A rare autosomal dominant condition in which there is defective ossification of the cranial bones with large fontanels and delayed closing of the sutures, complete or partial absence of the clavicles, wide pubic symphysis, short middle phalanges of the fifth fingers, and dental and vertebral anomalies. (From Dorland, 27th ed)
Also Known As:
Cleidocranial Dysostosis; Cleidocranial Dysostoses; Cleidocranial Dysplasias; Dysostoses, Cleidocranial; Dysplasia, Cleidocranial; Dysplasias, Cleidocranial; Dysostosis, Cleidocranial
Networked: 111 relevant articles (0 outcomes, 3 trials/studies)

Disease Context: Research Results

Related Diseases

1. Supernumerary Tooth (Supernumerary Teeth)
2. Osteogenesis Imperfecta (Lobstein Disease)
3. Craniosynostoses (Craniosynostosis)
4. Acute Myeloid Leukemia (Acute Myelogenous Leukemia)
5. Osteopetrosis

Experts

1. Stein, Gary S: 4 articles (05/2010 - 12/2002)
2. Lian, Jane B: 4 articles (05/2010 - 12/2002)
3. van Wijnen, Andre J: 3 articles (05/2010 - 04/2006)
4. Stein, Janet L: 3 articles (05/2010 - 04/2006)
5. Caetano, Isabela Maria: 2 articles (05/2015 - 01/2014)
6. da Cunha, Leonardo Fernandes: 2 articles (05/2015 - 01/2014)
7. Komori, Toshihisa: 2 articles (04/2015 - 06/2004)
8. Mishima, Kenichi: 2 articles (02/2015 - 01/2014)
9. Ishiguro, Naoki: 2 articles (02/2015 - 01/2014)
10. Kitoh, Hiroshi: 2 articles (02/2015 - 01/2014)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Cleidocranial Dysplasia:
1. Transcription Factors (Transcription Factor)IBA
2. CollagenIBA
12/01/2007 - "[Immunohistochemical study on collagen I content in the gingiva in cleidocranial dysplasia]."
12/01/2006 - "Bone and cartilage and their disorders are addressed under the following headings: functions of bone; normal and abnormal bone remodeling; osteopetrosis and osteoporosis; epithelial-mesenchymal interaction, condensation and differentiation; osteoblasts, markers of bone formation, osteoclasts, components of bone, and pathology of bone; chondroblasts, markers of cartilage formation, secondary cartilage, components of cartilage, and pathology of cartilage; intramembranous and endochondral bone formation; RUNX genes and cleidocranial dysplasia (CCD); osterix; histone deacetylase 4 and Runx2; Ligand to receptor activator of NFkappaB (RANKL), RANK, osteoprotegerin, and osteoimmunology; WNT signaling, LRP5 mutations, and beta-catenin; the role of leptin in bone remodeling; collagens, collagenopathies, and osteogenesis imperfecta; FGFs/FGFRs, FGFR3 skeletal dysplasias, craniosynostosis, and other disorders; short limb chondrodysplasias; molecular control of the growth plate in endochondral bone formation and genetic disorders of IHH and PTHR1; ANKH, craniometaphyseal dysplasia, and chondrocalcinosis; transforming growth factor beta, Camurati-Engelmann disease (CED), and Marfan syndrome, types I and II; an ACVR1 mutation and fibrodysplasia ossificans progressiva; MSX1 and MSX2: biology, mutations, and associated disorders; G protein, activation of adenylyl cyclase, GNAS1 mutations, McCune-Albright syndrome, fibrous dysplasia, and Albright hereditary osteodystrophy; FLNA and associated disorders; and morphological development of teeth and their genetic mutations."
3. Core Binding Factors (Core-Binding Factor)IBA
4. DNA (Deoxyribonucleic Acid)IBA
5. Marie-Sainton syndromeIBA
6. Pyle diseaseIBA
7. Glutamine (L-Glutamine)FDA Link
8. Carrier Proteins (Binding Protein)IBA
9. Transforming Growth Factor beta (TGF-beta)IBA
04/01/2000 - "Topics covered include: collagenopathies and osteogenesis imperfecta; core binding factor transcription factors and cleidocranial dysplasia; bone morphogenetic proteins and fibrodysplasia ossificans progressiva; transforming growth factor beta, suture closure, and craniosynostosis; Indian hedgehog, parathyroid hormone-related protein together with its receptor, and Jansen metaphyseal chondrodysplasia."
12/01/2006 - "Bone and cartilage and their disorders are addressed under the following headings: functions of bone; normal and abnormal bone remodeling; osteopetrosis and osteoporosis; epithelial-mesenchymal interaction, condensation and differentiation; osteoblasts, markers of bone formation, osteoclasts, components of bone, and pathology of bone; chondroblasts, markers of cartilage formation, secondary cartilage, components of cartilage, and pathology of cartilage; intramembranous and endochondral bone formation; RUNX genes and cleidocranial dysplasia (CCD); osterix; histone deacetylase 4 and Runx2; Ligand to receptor activator of NFkappaB (RANKL), RANK, osteoprotegerin, and osteoimmunology; WNT signaling, LRP5 mutations, and beta-catenin; the role of leptin in bone remodeling; collagens, collagenopathies, and osteogenesis imperfecta; FGFs/FGFRs, FGFR3 skeletal dysplasias, craniosynostosis, and other disorders; short limb chondrodysplasias; molecular control of the growth plate in endochondral bone formation and genetic disorders of IHH and PTHR1; ANKH, craniometaphyseal dysplasia, and chondrocalcinosis; transforming growth factor beta, Camurati-Engelmann disease (CED), and Marfan syndrome, types I and II; an ACVR1 mutation and fibrodysplasia ossificans progressiva; MSX1 and MSX2: biology, mutations, and associated disorders; G protein, activation of adenylyl cyclase, GNAS1 mutations, McCune-Albright syndrome, fibrous dysplasia, and Albright hereditary osteodystrophy; FLNA and associated disorders; and morphological development of teeth and their genetic mutations."
10. CosmeticsIBA

Therapies and Procedures

1. Sutures (Suture)
2. Prosthodontics
3. Transplants (Transplant)
4. Traction
5. Orthognathic Surgery