Uma condição que afeta principalmente o desenvolvimento dos ossos e dentes. As características incluem clavículas (clavículas) subdesenvolvidas ou ausentes; anomalias dentárias; e atraso no fechamento dos espaços entre os ossos do crânio (fontanelas). Outras características podem incluir diminuição da densidade óssea (osteopenia), osteoporose, perda auditiva, anomalias ósseas das mãos e infecções recorrentes dos seios da face e dos ouvidos. O CCD é causado por alterações (mutações) no gene RUNX2 e a herança é autossômica dominante. Pode ser herdado de um dos pais afetados ou ocorrer devido a uma nova mutação no gene RUNX2. O manejo pode incluir procedimentos odontológicos, tratamento de infecções sinusais e de ouvido, uso de capacetes para atividades de alto risco e/ou cirurgia para problemas esqueléticos.
Introdução
O que você precisa saber de cara
Uma condição que afeta principalmente o desenvolvimento dos ossos e dentes. As características incluem clavículas (clavículas) subdesenvolvidas ou ausentes; anomalias dentárias; e atraso no fechamento dos espaços entre os ossos do crânio (fontanelas). Outras características podem incluir diminuição da densidade óssea (osteopenia), osteoporose, perda auditiva, anomalias ósseas das mãos e infecções recorrentes dos seios da face e dos ouvidos. O CCD é causado por alterações (mutações) no gene RUNX2 e a herança é autossômica dominante. Pode ser herdado de um dos pais afetados ou ocorrer devido a uma nova mutação no gene RUNX2. O manejo pode incluir procedimentos odontológicos, tratamento de infecções sinusais e de ouvido, uso de capacetes para atividades de alto risco e/ou cirurgia para problemas esqueléticos.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 34 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 95 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant, Not applicable.
Transcription factor involved in osteoblastic differentiation and skeletal morphogenesis (PubMed:28505335, PubMed:28703881, PubMed:28738062). Essential for the maturation of osteoblasts and both intramembranous and endochondral ossification. CBF binds to the core site, 5'-PYGPYGGT-3', of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers, osteocalcin, osteopontin, bone sialoprotein, alpha 1(I) collagen, LCK, IL-3 and GM-CSF prom
NucleusCytoplasm
Cleidocranial dysplasia 1
A form of cleidocranial dysplasia, a rare skeletal disorder with significant clinical variability, even within families. Patients typically present with delayed closure of cranial sutures and fontanels with multiple Wormian bones, retarded ossification of the skull, shortening of the distal phalanges, dental anomalies including supernumerary teeth and eruption failure, clavicular hypoplasia or aplasia, wide pubic symphysis, vertebral anomalies, and short stature. CLCD1 inheritance is autosomal dominant.
Variantes genéticas (ClinVar)
244 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 10 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
9 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Displasia cleidocraniana
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Deep-Intronic Variant in RUNX2 Causing Pseudo-Exon Inclusion in a Family With Cleidocranial Dysplasia.
A deep-intronic single nucleotide variant in RUNX2 causes the characteristic clinical features of cleidocranial dysplasia (CCD) in a family via pseudo-exon inclusion into the mRNA. The pseudo-exon contains a premature stop codon and triggers mRNA decay, which results in RUNX2 haploinsufficiency, the known disease mechanism.
The Impact of Genetics on Craniofacial Dysplasias and Consequent Oral Malformations-Integrative Review.
Diseases affecting the craniofacial skeleton are normally associated with disturbances in the regulation of cellular differentiation, the development of bone structures, and changes in bone density and ossification. Thus, the objective of this integrative review is to evaluate the published scientific literature from the last 8 years concerning the impact of genetics on some craniofacial dysplasias. Our aim covers the identification of oral cavity alterations to those dysplasias, through the most common orofacial manifestations. Three dysplasias were selected to be part of this integrative review: cleidocranial dysplasia, ectodermal dysplasia and Apert syndrome. For this purpose, a bibliographic search was performed in the PubMed, ScienceDirect, Web of Science and Google Scholar databases with several keywords combined with each other. The research question of this review was as follows: "What is the impact of genetic factors on the development of craniofacial dysplasias and associated oral malformations?". After selecting the articles through the application of inclusion and exclusion criteria, 11 articles were selected for this review. Genetics plays a crucial role in craniofacial dysplasias and subsequent oral malformations. The main conclusion was that mutations in different genes can lead to identical phenotypes, while mutations in the same gene can present slight phenotypic differences depending on where they occur. In the future, it would be important to conduct studies with larger samples and control groups that include genetic testing to allow for a more comprehensive study on the impact of genetics on craniofacial dysplasias.
Computed Tomography Analysis of Craniofacial Features in Japanese Patients With Cleidocranial Dysplasia.
Cleidocranial dysplasia is a congenital malformation syndrome characterized by skeletal and dental abnormalities as well as distinctive craniofacial features. Most previous reports have relied on two-dimensional radiographs, and no comprehensive three-dimensional investigations have been conducted. This study aimed to provide a detailed overview of craniofacial features in patients with cleidocranial dysplasia using computed tomography. Craniofacial characteristics of 11 Japanese patients were assessed using three-dimensional computed tomography reconstructions. Qualitative evaluations were performed across three regions: cranial, nasomaxillary complex, and mandibular. In the cranial region, all patients presented Wormian bones and hypoplastic mastoid processes. In the nasomaxillary complex, hypoplastic nasal bones, atypical piriform aperture contours, and discontinuous or downward-bent zygomatic arches were frequently observed. In the mandibular region, atypical sigmoid notch morphology, nearly parallel-sided ascending rami, and abnormally rounded mandibular angles were identified. Novel findings included aplastic/hypoplastic styloid processes, thin-appearing orbital walls, downward displacement of the temporal process of the maxillary bone, and atypical coronoid process morphology. Bilateral expression of all craniofacial traits was also newly confirmed. To our knowledge, this is the first comprehensive three-dimensional study of craniofacial morphology in cleidocranial dysplasia. These observations provide new insights into the pathophysiology and developmental mechanisms underlying craniofacial anomalies in affected patients.
Diagnosis, treatment, and management recommendations for cleidocranial dysplasia: A Modified Delphi panel.
Cleidocranial dysplasia is a rare genetic condition negatively impacting skeletal development. Clinical guidelines for patients, their family members, and clinicians on the diagnosis, treatment, and management of this disease are lacking. The aim of this study was to align expert opinion on standard of care medical recommendations for patients with cleidocranial dysplasia, primarily for adults and children (≥2 years of age). A modified Delphi panel comprised of a three-round survey was used to determine consensus among a multidisciplinary team of thirteen experts with experience treating patients with cleidocranial dysplasia. Statements for Round 1 were generated from a targeted literature review and received input from a steering committee of two experts within the panel. Expert discussion held after Round 2 helped refine statements for Round 3; the steering committee also reviewed statements before dissemination in each round. The consensus threshold was pre-defined as ≥70% agreement or disagreement for Likert-scale statements or ≥70% of experts selecting the same response for a multiple-choice option. For statements wherein consensus was measured, 79% (n/N=26/33), 91% (n/N=21/23), and 100% (n/N=12/12) of statements reached consensus, respectively, in Round 1, Round 2, and Round 3. Overall, consensus was reached on 37 standard of care recommendations for patients with cleidocranial dysplasia: 9 regarding diagnosis, 24 regarding treatment and management, consisting of 7 dental/orthodontic and 17 other medical (non-dental/orthodontic), and 4 regarding care providers. The expert consensus reached in this panel informs the first comprehensive best practice guidelines for patients, their family members, and healthcare providers to diagnose, treat, and manage the dental/orthodontic and other medical complications of cleidocranial dysplasia. Cleidocranial dysplasia is a rare bone and dental disease that lacks healthcare guidelines for diagnosis, treatment, and management. We collected opinions from thirteen experts across different specialties to establish standard of care recommendations. Feedback was gathered through three rounds of surveys wherein experts reviewed statements about cleidocranial dysplasia. Statements were edited based on feedback until majority agreement was reached, with the final recommendations covering diagnosis, dental/orthodontic and other medical treatment and management, and care providers. Ultimately, patients with cleidocranial dysplasia, their families, and clinicians may use this paper as a resource to help improve quality of care.
Oral health-related quality of life in patients with cleidocranial dysplasia: Impact of malocclusion traits and treatment modality.
Cleidocranial dysplasia (CCD) often results in supernumerary teeth, impacted teeth, and malocclusions. Treatment options include orthodontics to erupt the impacted dentition in the oral cavity or prosthodontic replacement of impacted teeth. This study assesses whether patients with CCD who have certain malocclusion traits have worse oral health-related quality of life (OHRQoL) than those without these malocclusions, and whether patients with CCD who received orthodontic treatment have better OHRQoL than those treated with prosthodontics. Patients with CCD aged 15 years and older underwent an oral examination and completed the oral health impact profile-14 survey. Independent-samples t tests were performed to compare the oral health impact profile-14 scores among patients with and without specific oral findings. Sixty-one patients participated in this study. Those with posterior crossbites experienced significantly worse OHRQoL in the domain of physical pain (P = 0.015; 95% confidence interval [CI] = 0.316-2.750). For those with anterior open bites, a significantly worse OHRQoL was observed in the domain of handicap (P = 0.046; 95% CI, 0.027-2.919). Anterior crossbites resulted in statistically significantly worse OHRQoL in the functional limitation domain (P = 0.027; 95% CI, 0.149-2.373). Lastly, patients who received prosthodontic treatment reported significantly worse OHRQoL (P = 0.037; 95% CI, 0.685-21.015) and higher scores in physical pain (P = 0.038; 95% CI, 0.114-3.981), physical disability (P = 0.005; 95% CI, 0.872-4.543), and social disability (P = 0.020; 95% CI, 0.091-3.398). Patients with CCD who have anterior crossbites, posterior crossbites, or anterior open bites have worse OHRQoL in specific domains compared with those without these malocclusions. In addition, patients who underwent prosthodontics had worse OHRQoL than those who underwent orthodontics.
Publicações recentes
Polyglutamine homorepeat regulates Runx2 condensation and cellular localization in a KPNA3-dependent manner.
Deep-Intronic Variant in RUNX2 Causing Pseudo-Exon Inclusion in a Family With Cleidocranial Dysplasia.
The Impact of Genetics on Craniofacial Dysplasias and Consequent Oral Malformations-Integrative Review.
Computed Tomography Analysis of Craniofacial Features in Japanese Patients With Cleidocranial Dysplasia.
📚 EuropePMC484 artigos no totalmostrando 197
Deep-Intronic Variant in RUNX2 Causing Pseudo-Exon Inclusion in a Family With Cleidocranial Dysplasia.
Clinical geneticsThe Impact of Genetics on Craniofacial Dysplasias and Consequent Oral Malformations-Integrative Review.
GenesComputed Tomography Analysis of Craniofacial Features in Japanese Patients With Cleidocranial Dysplasia.
Congenital anomaliesEarly prenatal detection of autosomal dominant skeletal dysplasia using first-trimester ultrasound and cell-free fetal DNA screening: three case reports.
Hong Kong medical journal = Xianggang yi xue za zhiDiagnosis, treatment, and management recommendations for cleidocranial dysplasia: A Modified Delphi panel.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchSmart cranioplasty in cleidocranial dysplasia: bridging robotics and neurotechnology for precision reconstruction.
Annals of medicine and surgery (2012)Functional impact of pathogenic mutations in the Runt homology domain of mouse Runx2 on skeletal and dental phenotypes in cleidocranial dysplasia.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchOral health-related quality of life in patients with cleidocranial dysplasia: Impact of malocclusion traits and treatment modality.
American journal of orthodontics and dentofacial orthopedics : official publication of the American Association of Orthodontists, its constituent societies, and the American Board of OrthodonticsClinical and Radiological Spectrum in Cleidocranial Dysplasia: A Case Series.
Current health sciences journalAnatomic assessment of palatal temporary skeletal anchorage devices insertion sites among patients with cleidocranial dysplasia vs controls: A retrospective cone-beam computed tomography analysis.
American journal of orthodontics and dentofacial orthopedics : official publication of the American Association of Orthodontists, its constituent societies, and the American Board of Orthodontics[Research progress in Runt-related transcription factor 2 regulation of bone remodeling and tooth eruption].
Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatologyImpacted second premolars in cleidocranial dysplasia: Three-dimensional position and morphology characteristics and factors affecting the success rate of closed eruption.
American journal of orthodontics and dentofacial orthopedics : official publication of the American Association of Orthodontists, its constituent societies, and the American Board of OrthodonticsA Chinese premature infant with cleidocranial dysplasia characterized by heterozygous RUNX2 mutation and cerebral infarction: a case report.
Frontiers in pediatricsCleidocranial Dysplasia: A Case Report Highlighting Dental, Craniofacial, and Skeletal Complexity.
Clinical case reportsA Child With Cleidocranial Dysplasia Presenting With Seizure Disorder.
CureusCleidocranial Dysplasia With Multiple Impacted Teeth and Dentigerous Cysts: A Case Report of a Rare Entity.
CureusIdentification and splicing analysis of the first deep intronic FIG4 variant causing Yunis-Varon syndrome.
Frontiers in genetics[Skeletal dysplasias-Multidisciplinary orthopedics].
Orthopadie (Heidelberg, Germany)RUNX2 is essential for maintaining synchondrosis chondrocytes and cranial base growth.
Bone researchUnveiling Cleidocranial Dysplasia: An Antenatal Journey Through Ultrasound and Delivering the Importance of Taking Phenotype History; "Echoes of the Past".
Journal of clinical ultrasound : JCUDownregulation of Nesprin1 by Runx2 deficiency is critical for the development of skeletal laminopathy-like pathology.
Proceedings of the National Academy of Sciences of the United States of AmericaPrenatal ultrasonography and genetic analysis of fetal cleidocranial dysplasia: A case report.
World journal of clinical casesUnraveling RUNX2 mutation in a cleidocranial dysplasia patient: Molecular insights into osteogenesis and proteostasis.
Genes & diseasesDisturbances of Dental Development in Cleidocranial Dysplasia.
The Journal of craniofacial surgerySyndromic and Non-Syndromic Primary Failure of Tooth Eruption: A Genetic Overview.
GenesCbfβ: A key regulator in skeletal stem cell differentiation, bone development, and disease.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyA Cryptic CBFB Deletion-Inversion Expands the Mutational Spectrum of Variants Associated With Cleidocranial Dysplasia.
Clinical geneticsNeonatal Familiar Cleidocranial Dysplasia: A Case Report.
The American journal of case reportsAccuracy and user experience of dental diagnosis of a patient with cleidocranial dysplasia using immersive virtual reality and cone-beam computed tomography multiplanar reconstructions.
American journal of orthodontics and dentofacial orthopedics : official publication of the American Association of Orthodontists, its constituent societies, and the American Board of OrthodonticsExploring the complexities of cleidocranial dysplasia: Dental anomalies and treatment interventions.
American journal of orthodontics and dentofacial orthopedics : official publication of the American Association of Orthodontists, its constituent societies, and the American Board of OrthodonticsThe impact of RUNX2 gene variants on cleidocranial dysplasia phenotype: a systematic review.
Journal of translational medicineA novel RUNX2 splice site mutation in Chinese associated with cleidocranial dysplasia.
HeliyonCleidocranial Dysplasia Presenting With Mixed Dentition in a 28-Year-Old Male: A Case Report.
CureusNavigating challenges: Cleidocranial dysplasia and complexities in transvenous pacemaker implantation.
Radiology case reportsClinical and Radiological Insights of Cleidocranial Dysplasia: A Case Report of a Rare Medical Condition.
CureusClinicoradiological findings in a case of cleidocranial dysplasia.
BMJ case reportsA Rare Case of Cleidocranial Dysplasia Causing Unilateral Lung Herniation in the Setting of an Acute Viral Infection.
CureusAbnormal dental follicle cells: A crucial determinant in tooth eruption disorders (Review).
Molecular medicine reportsImaging characteristics of gubernaculum tracts in patients with cleidocranial dysplasia: a computed tomography study.
Oral surgery, oral medicine, oral pathology and oral radiologyThree-dimensional evaluation of dental characteristics in patients with Cleidocranial dysplasia.
BMC oral healthPrenatal diagnosis of cleidocranial dysplasia: Case report on two cases with a negative family history.
HeliyonXenopus tropicalis osteoblast-specific open chromatin regions reveal promoters and enhancers involved in human skeletal phenotypes and shed light on early vertebrate evolution.
Cells & developmentCleidocranial dysplasia associated with dentigerous cyst-review of literature and case report of two siblings.
Indian journal of pathology & microbiologyNon-syndromic Bilateral Supernumerary Teeth in the Primary and Secondary Dentition: A Rare Case Report.
CureusNew Genetic Variants of RUNX2 in Mexican Families Cause Cleidocranial Dysplasia.
BiologyDouble Mesiodens in the Mixed Dentition of Non-syndromic North-Indian Patients: A Case Series.
CureusFamilial Cleidocranial Dysplasia: A Diagnostic Challenge.
Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of IndiaA novel de novo variant in the RUNX2 gene causes cleidocranial dysplasia in a Malian girl.
Clinical case reportsA Case Series of Three Patients with Cleidocranial Dysplasia: Clinical Presentation and Diagnostic Considerations.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationAn Oral Odyssey: Navigating the Complexity of Impacted Parapremolars and Paramolars in the Oral Landscape!
CureusCraniofacial syndromes and class III phenotype: common genotype fingerprints? A scoping review and meta-analysis.
Pediatric researchA Clinical Odyssey Involving Cleidocranial Dysplasia: Report of a Rare Case.
CureusRUNX2-related metaphyseal dysplasia with maxillary hypoplasia: A rare skeletal disorder resembling SFRP4-related Pyle disease.
Clinical geneticsImpact of Mechanical Strain and Nicotinamide on RUNX2-Deficient Osteoblast Mimicking Cleidocranial Dysplasia.
International journal of molecular sciencesCleidocranial Dysplasia: A Rare Case Report.
Journal of pharmacy & bioallied sciencesPeptidylarginine deiminase 2 plays a key role in osteogenesis by enhancing RUNX2 stability through citrullination.
Cell death & disease[Early treatment principles of tooth replacement disorders associated with hereditary oral diseases].
Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatologyDental characteristics of patients with four different types of skeletal dysplasias.
Clinical oral investigationsFunctional consequences of C-terminal mutations in RUNX2.
Scientific reportsGenotype-phenotype analysis of selective failure of tooth eruption-A systematic review.
Clinical geneticsNewborn with isolated severe deficiency of cranial vault ossification: a case of cleidocranial dysplasia.
Archives of disease in childhood. Fetal and neonatal editionGlutathione limits RUNX2 oxidation and degradation to regulate bone formation.
JCI insightExpression of FBXW11 in normal and disease-associated osteogenic cells.
Journal of cellular and molecular medicineRUNX2 mutation inhibits the cellular senescence of dental follicle cells via ERK signalling pathway.
Oral diseasesRestoration of a Maxillary Anterior Defect With a Rotational Path Removable Partial Denture: Clinical Report of a Patient With Cleidocranial Dysplasia.
Compendium of continuing education in dentistry (Jamesburg, N.J. : 1995)Amyloid-mediated remineralization for tooth hypoplasia of cleidocranial dysplasia.
Frontiers in cellular and infection microbiologyA Three-dimensional Analysis of Nasopharyngeal Airway Characteristics in Subjects with Cleidocranial Dysplasia: A CBCT Study.
International journal of clinical pediatric dentistry[Analysis of clinical phenotypes and genetic variants in two children with sporadic cleidocranial dysplasia].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsSuspected Endodontic Failure in a Patient with Cleidocranial Dysplasia: A Case Report.
Journal of endodonticsAltered phenotypes due to genetic interaction between the mouse phosphoinositide biosynthesis genes Fig4 and Pip4k2c.
G3 (Bethesda, Md.)Inhibition of miR338 rescues cleidocranial dysplasia in Runx2 mutant mice partially via the Hif1a-Vegfa axis.
Experimental & molecular medicineA novel single-base deletion of the RUNX Family Transcription Factor 2 gene associated with cleidocranial dysplasia.
European journal of oral sciencesDetection and diagnosis of cleidocranial dysplasia by panoramic radiography: a retrospective study.
BMC oral healthChloroquine corrects enlarged lysosomes in FIG4 null cells and reduces neurodegeneration in Fig4 null mice.
Molecular genetics and metabolismCleidocranial dysplasia with hypermobile Ehlers-Danlos syndrome: A case report.
Radiology case reportsDifferent Requirements of CBFB and RUNX2 in Skeletal Development among Calvaria, Limbs, Vertebrae and Ribs.
International journal of molecular sciences[Analysis of clinical phenotype and genetic variant in a Chinese pedigree affected with cleidocranial dysplasia].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsConservative orthodontic and multidisciplinary approaches for patients with cleidocranial dysplasia in late adolescence or young adulthood.
Journal of stomatology, oral and maxillofacial surgeryCleidocranial dysplasia-A case report of incidentally found and lately diagnosed disorder.
Clinical case reportsHeterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia.
Journal of medical geneticsRunx2 and Nell-1 in dental follicle progenitor cells regulate bone remodeling and tooth eruption.
Stem cell research & therapyA Novel lncRNA Mediates the Delayed Tooth Eruption of Cleidocranial Dysplasia.
CellsMosaic Deletions of Known Genes Explain Skeletal Dysplasias With High and Low Bone Mass.
JBMR plusRUNX2 Nonsense Mutation Associated with Cleidocranial Dysplasia with Unusual Dental Features.
Journal of dentistry for children (Chicago, Ill.)A Novel 90-kbp Deletion of RUNX2 Associated with Cleidocranial Dysplasia.
GenesOsteoarthritis in a fifty-year-old patient with unfused skeleton due to undiagnosed coexisting cleidocranial and spondyloepiphyseal dysplasia - Case report.
Annals of medicine and surgery (2012)An overview of the intraoral features and craniofacial morphology of growing and adult Japanese cleidocranial dysplasia subjects.
European journal of orthodonticsClinical, radiographic, and genetic observations in 2 families with cleidocranial dysplasia.
General dentistryNewborn with cleidocranial dysplasia.
Skeletal radiologyCleidocranial dysplasia and novel RUNX2 variants: dental, craniofacial, and osseous manifestations.
Journal of applied oral science : revista FOBFisetin: An Integrated Approach to Identify a Strategy Promoting Osteogenesis.
Frontiers in pharmacologyCraniofacial Phenotypes and Genetics of DiGeorge Syndrome.
Journal of developmental biologyDemographic, clinical, and radiological characteristics of cleidocranial dysplasia: A systematic review of cases reported in south America.
Annals of medicine and surgery (2012)RUNX2 Regulates Osteoblast Differentiation via the BMP4 Signaling Pathway.
Journal of dental researchCleidocranial dysplasia: a case report and gene mutation analysis.
Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology[Identification of c.196C>T nonsense RUNX2 variant in a Chinese patient with cleidocranial dysplasia].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsInduced pluripotent stem cells from homozygous Runx2-deficient mice show poor response to vitamin D during osteoblastic differentiation.
Medical molecular morphologyMETTL5 regulates cranial suture fusion via Wnt signaling.
Fundamental researchDoes An Osteotomy Performed in Congenital Pseudarthrosis of the Tibia Heal?
Journal of pediatric orthopedics[Clinical characteristics and comprehensive treatment of patients with cleidocranial dysplasia].
Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatologyIdentification a novel de novo RUNX2 frameshift mutation associated with cleidocranial dysplasia.
Genes & genomicsMarie-Sainton syndrome (cleidocranial dysplasia): early diagnosis is the key.
BMJ case reportsRare Findings in Cleidocranial Dysplasia Caused by RUNX Mutation.
Global medical geneticsCraniofacial Orthodontic Experience in CODA-Accredited Orthodontic Residency Programs.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationHypoplasia of medial pterygoid process in sphenoid bone relates to decreased mesenchymal cell proliferation in the Runx2-haploinsufficient cleidocranial dysplasia mouse model.
Archives of oral biologyGenome sequencing identified a novel exonic microdeletion in the RUNX2 gene that causes cleidocranial dysplasia.
Clinica chimica acta; international journal of clinical chemistryInterdisciplinary treatment of patients with cleidocranial dysplasia and multiple unerupted permanent teeth.
Journal of clinical orthodontics : JCOClinical-radiological approach for the diagnosis of cleidocranial dysplasia in adults: A familial cases series.
Clinical case reportsGenetic Pattern, Orthodontic and Surgical Management of Multiple Supplementary Impacted Teeth in a Rare, Cleidocranial Dysplasia Patient: A Case Report.
Medicina (Kaunas, Lithuania)FIG4-Associated Yunis-Varon Syndrome: Identification of a Novel Missense Variant.
Molecular syndromologyIdentification of a familial cleidocranial dysplasia with a novel RUNX2 mutation and establishment of patient-derived induced pluripotent stem cells.
OdontologyWhole-exome sequencing of a novel initiation codon mutation in RUNX2 in a Chinese family with cleidocranial dysplasia.
MedicineAppropriateness of standard cephalometric norms for the assessment of dentofacial characteristics in patients with cleidocranial dysplasia.
Dento maxillo facial radiologyAn Exploration of Mutagenesis in a Family with Cleidocranial Dysplasia without RUNX2 Mutation.
Frontiers in geneticsCongenital Pseudarthrosis of the Tibia Associated With Cleidocranial Dysostosis: Case Report and Literature Review.
JBJS case connectorTwo Novel C-Terminus RUNX2 Mutations in Two Cleidocranial Dysplasia (CCD) Patients Impairing p53 Expression.
International journal of molecular sciencesCleidocranial Dysplasia Causing Respiratory Distress in Neonates: A Case Report and Literature Review.
Frontiers in geneticsRadiographic features of cleidocranial dysplasia on panoramic radiographs.
Imaging science in dentistryIntraparenchymal hemorrhage in a neonate with cleidocranial dysplasia.
Pediatrics international : official journal of the Japan Pediatric SocietyCleidocranial dysostosis: a case report with clinical illustration.
The Pan African medical journal[Analysis of RUNX2 gene variant in a Chinese patient with cleidocranial dysplasia].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsA Prosthodontic Approach as a Complementary Solution for a Complicated Orthodontic Treatment of a Patient with Cleidocranial Dysplasia.
Case reports in dentistryClinical relevance of targeted exome sequencing in patients with rare syndromic short stature.
Orphanet journal of rare diseasesIdentification of a Novel Splice Site Mutation in RUNX2 Gene in a Family with Rare Autosomal Dominant Cleidocranial Dysplasia.
Iranian biomedical journalMultidisciplinary prosthetic rehabilitation of an adult patient with cleidocranial dysplasia by using a rapid external distraction device: A clinical report.
The Journal of prosthetic dentistryImaging studies used as aid in the diagnosis of cleidocranial dysplasia. A review.
Revista cientifica odontologica (Universidad Cientifica del Sur)Hypophosphatasia and cleidocranial dysplasia-a case report and review of the literature: the role of the neurosurgeon.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgerySkeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey.
American journal of medical genetics. Part AReconstruction Using Free Vascularized Fibular Grafts after Wide Resection of Humerus Chondrosarcoma in a Patient with Cleidocranial Dysplasia.
Case reports in orthopedicsParietal aplasia and hypophosphatasia in a child harboring a novel mutation in RUNX2 and a likely pathogenic variant in TNSALP.
BoneIdentification of a Novel Mutation in the Runt-Related Transcription Factor 2 Gene in a Chinese Family With Cleidocranial Dysplasia.
The Journal of craniofacial surgeryProsthetic rehabilitation of a patient with cleidocranial dysplasia using dental implants-a clinical report.
International journal of implant dentistryAn induced pluripotent stem cell line (GZHMCi003-A) derived from a fetus with exon 3 heterozygous deletion in RUNX2 gene causing cleidocranial dysplasia.
Stem cell researchDental Prosthetic Treatments in Cleidocranial Dysplasia: Case Report and Literature Review.
Case reports in dentistryIdentification of a novel RUNX2 gene mutation and early diagnosis of CCD in a cleidocranial dysplasia suspected Iranian family.
Clinical case reportsOrthognathic Surgery in Cleidocranial Dysplasia.
The Journal of craniofacial surgeryMed23 Regulates Sox9 Expression during Craniofacial Development.
Journal of dental researchNicotinamide Improves Delayed Tooth Eruption in Runx2+/- Mice.
Journal of dental researchEffect of periostin silencing on Runx2, RANKL and OPG expression in osteoblasts.
Journal of orofacial orthopedics = Fortschritte der Kieferorthopadie : Organ/official journal Deutsche Gesellschaft fur KieferorthopadieInduction of Noonan syndrome-specific human-induced pluripotent stem cells under serum-, feeder-, and integration-free conditions.
In vitro cellular & developmental biology. AnimalVGLL4 promotes osteoblast differentiation by antagonizing TEADs-inhibited Runx2 transcription.
Science advancesCMT4J, parkinsonism and a new FIG4 mutation.
Parkinsonism & related disordersA case report of cleidocranial dysplasia: A noninvasive approach.
Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric DentistryTeeth Impaction and Structural Teeth Anomalies.
Seminars in musculoskeletal radiology[The Pierre Marie-Sainton syndrome or cleidocranial dysplasia].
Revue medicale de LiegeNuss procedure for pectus excavatum in a patient with cleidocranial dysplasia.
General thoracic and cardiovascular surgerySella turcica morphology in patients with genetic syndromes: A systematic review.
Orthodontics & craniofacial researchAudiological evaluation of patients with cleidocranial dysplasia (CCD).
European review for medical and pharmacological sciencesDelayed Eruption In Cleidocranial Dysplasia.
Journal of Ayub Medical College, Abbottabad : JAMCCAGE-seq analysis of osteoblast derived from cleidocranial dysplasia human induced pluripotent stem cells.
BoneRUNX2-modifying enzymes: therapeutic targets for bone diseases.
Experimental & molecular medicineCleidocranial dysplasia, a rare skeletal disorder with failure of the cranial closure: case-based update.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryDelayed tooth movement in Runx2+/- mice associated with mTORC2 in stretch-induced bone formation.
Bone reportsPosterior fossa subdural hematoma in a neonate with cleidocranial dysostosis after a spontaneous vaginal delivery: a case report.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryOral Rehabilitation with Removable Partial Denture of a Patient with Cleidocranial Dysplasia.
Case reports in dentistryAdditional Assessment of Developed Occipital Sinus Using Intraoperative Indocyanine Green Videoangiography for a Safe Foramen Magnum Decompression-Technical Case Report.
Operative neurosurgery (Hagerstown, Md.)Clinical and radiological characterization of novel FIG4-related combined system disease with neuropathy.
Clinical geneticsA RUNX2 stabilization pathway mediates physiologic and pathologic bone formation.
Nature communicationsFIG4 mutations leading to parkinsonism and a phenotypical continuum between CMT4J and Yunis Varón syndrome.
Parkinsonism & related disordersCleidocranial Dysplasia: Management of the Multiple Craniofacial and Skeletal Anomalies.
The Journal of craniofacial surgery[When to think about pediatric congenital pseudoarthrosis of the clavicle? Presentation of 2 cases].
Archivos argentinos de pediatriaPublic Awareness of Cleidocranial Dysplasia After Season Releases of Stranger Things.
JAMA otolaryngology-- head & neck surgeryManagement of Two Cases of Supernumerary Teeth.
Pediatric dentistryNew Function of RUNX2 in Regulating Osteoclast Differentiation via the AKT/NFATc1/CTSK Axis.
Calcified tissue internationalMolecular Genetics of Cleidocranial Dysplasia.
Fetal and pediatric pathologyCleidocranial dysplasia with growth hormone deficiency: a case report.
BMC pediatricsCase series of cleidocranial dysplasia: Radiographic follow-up study of delayed eruption of impacted permanent teeth.
Imaging science in dentistryUpper Limb Ischaemia Caused by Cleidocranial Dysostosis.
European journal of vascular and endovascular surgery : the official journal of the European Society for Vascular SurgeryMolecular Mechanism of Runx2-Dependent Bone Development.
Molecules and cellsImplants Placement in Contact with Dental Tissue: A Potential Paradigm Shift? Systematic Literature Review.
European journal of dentistry[Cleidocranial dysplasia: a case report and gene mutation analysis].
Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatologyCleidocranial Dysplasia in a 10-year-old Child: A Case Report.
International journal of clinical pediatric dentistry[Prenatal diagnosis for two families affected with cleidocranial dysplasia due to novel RUNX2 variants].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsFull-mouth rehabilitation of a patient with cleidocranial dysplasia using immediately loaded basal implant-supported fixed prostheses: A case report.
International journal of surgery case reportsThree-dimensional evaluation of morphology and position of impacted supernumerary teeth in cases of cleidocranial dysplasia.
Congenital anomaliesHomozygous variant, p.(Arg643Trp) in VAC14 causes striatonigral degeneration: report of a novel variant and review of VAC14-related disorders.
Journal of human geneticsCumulative inactivation of Nell-1 in Wnt1 expressing cell lineages results in craniofacial skeletal hypoplasia and postnatal hydrocephalus.
Cell death and differentiationIdentification of RUNX2 variants associated with cleidocranial dysplasia.
HereditasImaging of Thoracic Wall Abnormalities.
Korean journal of radiologyFunctional analysis of novel RUNX2 mutations identified in patients with cleidocranial dysplasia.
Clinical geneticsCase of odontoma-related infection in a cleidocranial dysplasia.
BMJ case reportsCombined Orthodontic-Surgical Sequential Treatment of Cleidocranial Dysplasia: A Case Report With 7-Year Follow-up and Review of the Literature.
Annals of plastic surgeryMultiple supernumerary teeth in a nonsyndromic association: Rare presentation in three siblings.
Journal of oral and maxillofacial pathology : JOMFPThe ERK MAPK Pathway Is Essential for Skeletal Development and Homeostasis.
International journal of molecular sciencesRegulation of Proliferation, Differentiation and Functions of Osteoblasts by Runx2.
International journal of molecular sciencesCleidocranial dysplasia syndrome with epilepsy: a case report.
BMC pediatricsThe Treatment Strategy of Cleidocranial Dysplasia: Combined Orthodontic and Orthognathic Treatment.
The Journal of craniofacial surgeryBilateral Nonsyndromic Dentigerous Cyst in a 10-Year-Old Child: A Case Report and Literature Review.
International journal of applied & basic medical researchWhole-exome sequencing identification of a novel splicing mutation of RUNX2 in a Chinese family with cleidocranial dysplasia.
Archives of oral biologyMultidisciplinary Implant Rehabilitation of a Patient with Cleidocranial Dysostosis: A Journey from Age 13 to 21.
Journal of prosthodontics : official journal of the American College of ProsthodontistsBilateral Dentigerous Cyst in Impacted Mandibular Third Molars: A Case Report.
CureusMultiple impacted permanent teeth, an indicator for early detection of hypoparathyroidism: A rare case report.
Journal of family medicine and primary caremicroRNA-31 inhibition partially ameliorates the deficiency of bone marrow stromal cells from cleidocranial dysplasia.
Journal of cellular biochemistryCombined surgical-orthodontic treatment of patients with cleidocranial dysplasia: case report and review of the literature.
Orphanet journal of rare diseasesA Case of Cleidocranial Dysplasia with a Novel Mutation and Growth Velocity Gain with Growth Hormone Treatment.
Journal of clinical research in pediatric endocrinologyRunx2 regulates cranial suture closure by inducing hedgehog, Fgf, Wnt and Pthlh signaling pathway gene expressions in suture mesenchymal cells.
Human molecular geneticsClinical and radiological findings in a severe case of cleidocranial dysplasia.
BMJ case reportsAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Deep-Intronic Variant in RUNX2 Causing Pseudo-Exon Inclusion in a Family With Cleidocranial Dysplasia.
- The Impact of Genetics on Craniofacial Dysplasias and Consequent Oral Malformations-Integrative Review.
- Computed Tomography Analysis of Craniofacial Features in Japanese Patients With Cleidocranial Dysplasia.
- Diagnosis, treatment, and management recommendations for cleidocranial dysplasia: A Modified Delphi panel.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research· 2026· PMID 41504382mais citado
- Oral health-related quality of life in patients with cleidocranial dysplasia: Impact of malocclusion traits and treatment modality.American journal of orthodontics and dentofacial orthopedics : official publication of the American Association of Orthodontists, its constituent societies, and the American Board of Orthodontics· 2026· PMID 41410626mais citado
- Polyglutamine homorepeat regulates Runx2 condensation and cellular localization in a KPNA3-dependent manner.
- Comment on: "Anatomic assessment of palatal temporary skeletal anchorage devices insertion sites among patients with cleidocranial dysplasia vs controls: A retrospective cone-beam computed tomography analysis".
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:1452(Orphanet)
- OMIM OMIM:119600(OMIM)
- MONDO:0007340(MONDO)
- GARD:6118(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q781618(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
