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Cleidocranial Dysplasia (Cleidocranial Dysostosis)

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.
Also Known As:
Cleidocranial Dysostosis; Cleidocranial Digital Dysostosis; Marie-Sainton Syndrome; Scheuthauer-Marie-Sainton Syndrome; Cleidocranial Digital Dysostoses; Cleidocranial Dysostoses; Cleidocranial Dysplasias; Dysostoses, Cleidocranial; Dysostoses, Cleidocranial Digital; Dysostosis, Cleidocranial Digital; Dysplasia, Cleidocranial; Dysplasias, Cleidocranial; Marie Sainton Syndrome; Scheuthauer Marie Sainton Syndrome; Syndrome, Marie-Sainton; Syndrome, Scheuthauer-Marie-Sainton; Dysostosis, Cleidocranial
Networked: 160 relevant articles (1 outcomes, 6 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Oral Manifestations
2. Supernumerary Tooth (Supernumerary Teeth)
3. Inborn Genetic Diseases (Disease, Hereditary)
4. Craniosynostoses (Craniosynostosis)
5. Cleidocranial Dysplasia (Cleidocranial Dysostosis)

Experts

1. Lian, Jane B: 4 articles (05/2010 - 12/2002)
2. Stein, Gary S: 4 articles (05/2010 - 12/2002)
3. Soo, Chia: 3 articles (01/2020 - 04/2011)
4. Ting, Kang: 3 articles (01/2020 - 04/2011)
5. Zhang, Xinli: 3 articles (01/2020 - 04/2011)
6. Feng, Hailan: 3 articles (12/2018 - 01/2017)
7. Wang, Yixiang: 3 articles (12/2018 - 11/2010)
8. Chen, Feng: 3 articles (10/2018 - 04/2011)
9. Ishiguro, Naoki: 3 articles (01/2016 - 01/2014)
10. Kitoh, Hiroshi: 3 articles (01/2016 - 01/2014)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Cleidocranial Dysplasia:
1. AntioxidantsIBA
2. Transcription Factors (Transcription Factor)IBA
3. Proteins (Proteins, Gene)FDA Link
4. LigandsIBA
10/01/2018 - "Meanwhile, secretory protein neural EGFL-like 1 (Nell-1) is known to exert potent osteogenic effects in multiple small and large animal models without the off-target effects commonly found with bone morphogenetic protein 2. In this study, while searching for a Nell-1-specific cell surface receptor during osteogenesis, we identified and validated a ligand/receptor-like interaction between Nell-1 and Cntnap4 by demonstrating: 1) Nell-1 and Cntnap4 colocalization on the surface of osteogenic-committed cells; 2) high-affinity interaction between Nell-1 and Cntnap4; 3) abrogation of Nell-1-responsive Wnt and MAPK signaling transduction, as well as osteogenic effects, via Cntnap4 knockdown; and 4) replication of calvarial cleidocranial dysplasias-like defects observed in Nell-1-deficient mice in Wnt1-Cre-mediated Cntnap4-knockout transgenic mice. "
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."
5. 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."
6. Bone Morphogenetic Protein 2IBA
7. Cell Surface ReceptorsIBA
8. Core Binding Factors (Core-Binding Factor)IBA
9. DNA (Deoxyribonucleic Acid)IBA
10. Transforming Growth Factor beta (TGF-beta)IBA
01/01/1996 - "Furthermore, a high level of TGF-beta 2 overexpression resulted in defective bone mineralization and severe hypoplasia of the clavicles, a hallmark of the developmental disease cleidocranial dysplasia. "
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."

Therapies and Procedures

1. Therapeutics
2. Sutures (Suture)
3. Autologous Transplantation
4. Removable Partial Denture
5. Cesarean Section (Caesarean Section)