Research Evidence
Peer-reviewed studies linked via MeSH term "Cleidocranial Dysplasia" from the MEDLINE/PubMed database.
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The impact of RUNX2 gene variants on cleidocranial dysplasia phenotype: a systematic review.
[object Object], [object Object], [object Object] et al. · J Transl Med · 2024
Dentomaxillofacial variability of cleidocranial dysplasia: clinicoradiological presentation and systematic review.
[object Object], [object Object], [object Object] et al. · Dentomaxillofac Radiol · 2003
PMID: 15070835Meta-Analysis
Accuracy and user experience of dental diagnosis of a patient with cleidocranial dysplasia using immersive virtual reality and cone-beam computed tomography multiplanar reconstructions.
[object Object], [object Object], [object Object] et al. · Am J Orthod Dentofacial Orthop · 2025
PMID: 39709222RCT
[Research progress in Runt-related transcription factor 2 regulation of bone remodeling and tooth eruption].
[object Object], [object Object], [object Object] et al. · Zhonghua Kou Qiang Yi Xue Za Zhi · 2025
PMID: 41184013Review
RUNX2-related metaphyseal dysplasia with maxillary hypoplasia: A rare skeletal disorder resembling SFRP4-related Pyle disease.
[object Object], [object Object], [object Object] et al. · Clin Genet · 2024
PMID: 38108099Review
Tooth formation and eruption - lessons learnt from cleidocranial dysplasia.
[object Object], [object Object] · Eur J Oral Sci · 2018
PMID: 30178560Review
Cleidocranial Dysplasia: A Review of Clinical, Radiological, Genetic Implications and a Guidelines Proposal.
[object Object], [object Object], [object Object] et al. · J Craniofac Surg · 2018
PMID: 29189406Review
Cleidocranial dysplasia and RUNX2-clinical phenotype-genotype correlation.
[object Object], [object Object], [object Object] et al. · Clin Genet · 2016
PMID: 27272193Review
[Tooth eruption disturbances and syndromes].
[object Object], [object Object], [object Object] et al. · Ned Tijdschr Tandheelkd · 2014
PMID: 24881265Review
[Oral and maxillofacial characteristics and differential diagnosis of pycnodysostosis].
[object Object], [object Object], [object Object] · Zhonghua Kou Qiang Yi Xue Za Zhi · 2013
PMID: 24262053Review
Search all PubMed articles for Cleidocranial dysostosis
Research data from MEDLINE/PubMed
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal facility in opposing the shoulders
Always present (100%)HP:0005259
Biparietal bossing
Always present (100%)HP:0000242
Abnormal skeletal development
Very frequent (80-99%)HP:0002652
Decreased body height
Very frequent (80-99%)HP:0004322
Defective tooth enamel
Very frequent (80-99%)HP:0000682
Dental cavities
Very frequent (80-99%)HP:0000670
Depressed cheekbone
Very frequent (80-99%)HP:0010669
Extra bones within cranial sutures
Very frequent (80-99%)HP:0002645
Frontal protuberance
Very frequent (80-99%)HP:0002007
Hypoplastic inferior ilia
Very frequent (80-99%)HP:0008821
Hypoplastic mandible condyle
Very frequent (80-99%)HP:0000347
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Increased tooth count
Very frequent (80-99%)HP:0011069
Large fontanelle
Very frequent (80-99%)HP:0000239
Low chest circumference
Very frequent (80-99%)HP:0000774
respiratory infections, recurrent
Very frequent (80-99%)HP:0002205
Short clavicles
Very frequent (80-99%)HP:0000894
Sloping forehead
Very frequent (80-99%)HP:0000340
Sloping shoulders
Very frequent (80-99%)HP:0200021
Tooth abnormalities
Very frequent (80-99%)HP:0000164
Abnormal metacarpal morphology
Frequent (30-79%)HP:0005916
Abnormality of the sacrum
Frequent (30-79%)HP:0005107
Aplastic clavicle
Frequent (30-79%)HP:0006660
Brachydactyly
Frequent (30-79%)HP:0001156
Chronic ear infection
Frequent (30-79%)HP:0000389
Deafness
Frequent (30-79%)HP:0000365
Delayed eruption of teeth
Frequent (30-79%)HP:0000684
Depressed nasal root/bridge
Frequent (30-79%)HP:0005280
Dislocated femoral heads
Frequent (30-79%)HP:0002827
Hearing abnormality
Frequent (30-79%)HP:0000364
Related Conditions
Dysostosis of bone of skull(parent)
Hereditary disorder of musculoskeletal system(parent)
Autosomal dominant hereditary disorder(parent)
Congenital anomaly of tooth(parent)
Congenital anomaly of bone of shoulder girdle(parent)
Developmental hereditary disorder(parent)
Hereditary disorder of tooth(parent)
Congenital anomaly of body wall(parent)
Abnormality of long bone morphology(parent)
Quick Facts
- SNOMED CT
- 65976001
- UMLS CUI
- C0008928
- Fully Specified Name
- Cleidocranial dysostosis (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.