Cleidocranial
Dysplasia
By Dani B. & Ashley G.
start
History
Cleidocranial dysplasia
Let's start at the beginning...
Etiology
Cleidocranial dysplasia
A genetic mutation...
Effect
Cause
Predilections
Altered endochondral bone formation delaying/slowing the process of turning cartilage to bone
An autosomal dominant genetic mutation May also occur "de novo," spontaneous mutation
Estimated to affect 1: 1,000,000 births
Symptoms
Cleidocranial dysplasia
Let's learn with a case study
Diagnosis
Cleidocranial dysplasia
A diagnosis is based on:
Differential Diagnosis
Radiological Examination
Narrow, drooping shoulders Frontal bossing Retained primary teeth Underdeveloped maxilla Small mid-face
Use this side of the card to provide more information about a topic. Focus on one concept. Make learning and communication more efficient.
Mandibuloacral dysplasia Hypophatasia Osteopenia Congenital pseudoarthrosis of the clavicle Cleidocranial dysplasia
Open sutures Wormian bones Hypoplastic clavicles Supernumerary teeth
Use this side of the card to provide more information about a topic. Focus on one concept. Make learning and communication more efficient.
Use this side of the card to provide more information about a topic. Focus on one concept. Make learning and communication more efficient.
Title
Clinical Examination
Radiological Examination
Title
Differential Diagnosis
Title
Write a brief description here
Write a brief description here
Write a brief description here
Treatment
Cleidocranial dysplasia
Effects on dental hygiene treatment
Cleidocranial dysplasia
The role of a dental hygienist:
Effects on the individual
Personal quotes from the CCD Smiles website and case study
Trinity
The End
Bibliography
Cleveland Clinic. (2022, September 1). Cleidocranial dysplasia: Symptoms, causes, treatment & outlook. https://my.clevelandclinic.org/health/diseases/24090-cleidocranial-dysplasia Cooper, S. C., Flaitz, C. M., Johnston, D. A., Lee, B., & Hecht, J. T. (2001). A Natural History of Cleidocranial Dysplasia. American Journal of Medical Genetics. https://onlinelibrary-wiley-com.aurarialibrary.idm.oclc.org/doi/epdf/10.1002/ajmg.10024 Granado-Abasto, L. A., Llaguno-Rubio, J. M., Fiori-Chíncaro, G. A., & Medina-Ocampo, P. E. (2021, June 21). Imaging Studies used as aid in the diagnosis of cleidocranial dysplasia. A Review. PubMed Central. https://pmc.ncbi.nlm.nih.gov/articles/PMC10919793/ Ickow, I. M. (2021). Cleidocranial dysplasia (CCD) | Johns Hopkins Medicine. Johns Hopkins Medicine. https://www.hopkinsmedicine.org/health/conditions-and-diseases/cleidocranial-dysplasia-ccd Kolokitha, O.-E., & Ioannidou, I. (2013, January 5). A 13-year-old Caucasian boy with Cleidocranial Dysplasia: A case report - bmc research notes. Springer Nature Link. https://link.springer.com/article/10.1186/1756-0500-6-6#Fig9 Lotlikar, P.P., Creanga, A.G. and Singer, S.R. (2018) Clinical and radiological findings in a severe case of cleidocranial dysplasia, PubMed Central. Available at: https://pmc.ncbi.nlm.nih.gov/articles/PMC6254376/ (Accessed: 02 March 2026). Mundlos, S. (1999). Cleidocranial dysplasia: clinical and molecular genetics. National Library of Medivine. https://pmc.ncbi.nlm.nih.gov/articles/PMC1734317/pdf/v036p00177.pdf The Doctors. (2018, January 24). ‘Stranger Things’ Actor Shares about Life with Cleidocranial Dysplasia. YouTube. https://www.youtube.com/watch?v=atI_SsbYxCg What is CCD?. CCD Smiles. (2020, May 20). https://ccdsmiles.org/education/what-is-ccd/ Whyte, Michael P. “Hypophosphatasia - Symptoms, Causes, Treatment.” National Organization for Rare Disorders, National Organization for Rare Disorders, Inc. , 2021, rarediseases.org/rare-diseases/hypophosphatasia/. Zhang, J., Li, Y., Chen, W., Yuan, J., Li, Q., Meng, Y., Yu, Y., & Guo, Q. (2021, December 16). Genome sequencing identified a novel exonic microdeletion in the RUNX2 gene that causes cleidocranial dysplasia. ScienceDirect. https://rss.sciencedirect.com/publication/science/00098981
Kyle started dental procedures when he was 5 years old. He experienced several surgeries and 8+ years of orthodontics. It took 24 years to finally be done with his dental journey.
Chromosome 6p21 Gene Runx2 (CBFA1)
Runx2, a transcription factor: Turning cartilage to bone Bone formation Bone cell differentiation
A 13-year-old Caucasian boy presented with his father with the chief complaint of delayed eruption of the permanent anterior teeth. Because of this delay, he was often teased at school. He was told that his smile was very unpleasant, which resulted in difficulty communicating with his classmates. -Kolokitha, O.E. (2013)
“CCD means that I have special qualities that no one else has. These qualities make me unique, so unique only 1 in a million people are like me." -Trinity
"It has benefited me in many ways because it’s basically started my acting career. It’s given me an opportunity to talk about it and not feel ashamed of it." -Gaten
M=F No ethnic predilections 1 : 1,000,000 births
“Having CCD makes me shorter and have teeth issues which can be hard – but it also makes me stronger.” -Jackson
Case presentation
A 13-year-old Caucasian boy was referred to the orthodontic clinic of the School of Dentistry, Aristotle University, Thessaloniki, Greece. He presented with his father with the chief complaint of delayed eruption of the permanent anterior teeth. Because of this delay, he was often teased at school. He was told that his smile was very unpleasant, which resulted in difficulty communicating with his classmates. His dentist could not explain the delayed eruption of his anterior teeth. Failed eruption of his permanent teeth was the reason that the patient sought treatment. His parents reported an unremarkable medical history. He was in good health with no medications and no known allergies. His dental history revealed no trauma to the mouth, teeth, or jaws.
Case study source
Cleidocranial dysplasia
Ashley
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Transcript
Cleidocranial
Dysplasia
By Dani B. & Ashley G.
start
History
Cleidocranial dysplasia
Let's start at the beginning...
Etiology
Cleidocranial dysplasia
A genetic mutation...
Effect
Cause
Predilections
Altered endochondral bone formation delaying/slowing the process of turning cartilage to bone
An autosomal dominant genetic mutation May also occur "de novo," spontaneous mutation
Estimated to affect 1: 1,000,000 births
Symptoms
Cleidocranial dysplasia
Let's learn with a case study
Diagnosis
Cleidocranial dysplasia
A diagnosis is based on:
Differential Diagnosis
Radiological Examination
Narrow, drooping shoulders Frontal bossing Retained primary teeth Underdeveloped maxilla Small mid-face
Use this side of the card to provide more information about a topic. Focus on one concept. Make learning and communication more efficient.
Mandibuloacral dysplasia Hypophatasia Osteopenia Congenital pseudoarthrosis of the clavicle Cleidocranial dysplasia
Open sutures Wormian bones Hypoplastic clavicles Supernumerary teeth
Use this side of the card to provide more information about a topic. Focus on one concept. Make learning and communication more efficient.
Use this side of the card to provide more information about a topic. Focus on one concept. Make learning and communication more efficient.
Title
Clinical Examination
Radiological Examination
Title
Differential Diagnosis
Title
Write a brief description here
Write a brief description here
Write a brief description here
Treatment
Cleidocranial dysplasia
Effects on dental hygiene treatment
Cleidocranial dysplasia
The role of a dental hygienist:
Effects on the individual
Personal quotes from the CCD Smiles website and case study
Trinity
The End
Bibliography
Cleveland Clinic. (2022, September 1). Cleidocranial dysplasia: Symptoms, causes, treatment & outlook. https://my.clevelandclinic.org/health/diseases/24090-cleidocranial-dysplasia Cooper, S. C., Flaitz, C. M., Johnston, D. A., Lee, B., & Hecht, J. T. (2001). A Natural History of Cleidocranial Dysplasia. American Journal of Medical Genetics. https://onlinelibrary-wiley-com.aurarialibrary.idm.oclc.org/doi/epdf/10.1002/ajmg.10024 Granado-Abasto, L. A., Llaguno-Rubio, J. M., Fiori-Chíncaro, G. A., & Medina-Ocampo, P. E. (2021, June 21). Imaging Studies used as aid in the diagnosis of cleidocranial dysplasia. A Review. PubMed Central. https://pmc.ncbi.nlm.nih.gov/articles/PMC10919793/ Ickow, I. M. (2021). Cleidocranial dysplasia (CCD) | Johns Hopkins Medicine. Johns Hopkins Medicine. https://www.hopkinsmedicine.org/health/conditions-and-diseases/cleidocranial-dysplasia-ccd Kolokitha, O.-E., & Ioannidou, I. (2013, January 5). A 13-year-old Caucasian boy with Cleidocranial Dysplasia: A case report - bmc research notes. Springer Nature Link. https://link.springer.com/article/10.1186/1756-0500-6-6#Fig9 Lotlikar, P.P., Creanga, A.G. and Singer, S.R. (2018) Clinical and radiological findings in a severe case of cleidocranial dysplasia, PubMed Central. Available at: https://pmc.ncbi.nlm.nih.gov/articles/PMC6254376/ (Accessed: 02 March 2026). Mundlos, S. (1999). Cleidocranial dysplasia: clinical and molecular genetics. National Library of Medivine. https://pmc.ncbi.nlm.nih.gov/articles/PMC1734317/pdf/v036p00177.pdf The Doctors. (2018, January 24). ‘Stranger Things’ Actor Shares about Life with Cleidocranial Dysplasia. YouTube. https://www.youtube.com/watch?v=atI_SsbYxCg What is CCD?. CCD Smiles. (2020, May 20). https://ccdsmiles.org/education/what-is-ccd/ Whyte, Michael P. “Hypophosphatasia - Symptoms, Causes, Treatment.” National Organization for Rare Disorders, National Organization for Rare Disorders, Inc. , 2021, rarediseases.org/rare-diseases/hypophosphatasia/. Zhang, J., Li, Y., Chen, W., Yuan, J., Li, Q., Meng, Y., Yu, Y., & Guo, Q. (2021, December 16). Genome sequencing identified a novel exonic microdeletion in the RUNX2 gene that causes cleidocranial dysplasia. ScienceDirect. https://rss.sciencedirect.com/publication/science/00098981
Kyle started dental procedures when he was 5 years old. He experienced several surgeries and 8+ years of orthodontics. It took 24 years to finally be done with his dental journey.
Chromosome 6p21 Gene Runx2 (CBFA1)
Runx2, a transcription factor: Turning cartilage to bone Bone formation Bone cell differentiation
A 13-year-old Caucasian boy presented with his father with the chief complaint of delayed eruption of the permanent anterior teeth. Because of this delay, he was often teased at school. He was told that his smile was very unpleasant, which resulted in difficulty communicating with his classmates. -Kolokitha, O.E. (2013)
“CCD means that I have special qualities that no one else has. These qualities make me unique, so unique only 1 in a million people are like me." -Trinity
"It has benefited me in many ways because it’s basically started my acting career. It’s given me an opportunity to talk about it and not feel ashamed of it." -Gaten
M=F No ethnic predilections 1 : 1,000,000 births
“Having CCD makes me shorter and have teeth issues which can be hard – but it also makes me stronger.” -Jackson
Case presentation
A 13-year-old Caucasian boy was referred to the orthodontic clinic of the School of Dentistry, Aristotle University, Thessaloniki, Greece. He presented with his father with the chief complaint of delayed eruption of the permanent anterior teeth. Because of this delay, he was often teased at school. He was told that his smile was very unpleasant, which resulted in difficulty communicating with his classmates. His dentist could not explain the delayed eruption of his anterior teeth. Failed eruption of his permanent teeth was the reason that the patient sought treatment. His parents reported an unremarkable medical history. He was in good health with no medications and no known allergies. His dental history revealed no trauma to the mouth, teeth, or jaws.
Case study source