Cleidocranial Dysplasia (CCD): Difference between revisions

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== Introduction ==
== Introduction ==
Cleidocranial Dysplasia (CCD) is a rare genetic disorder that affects the development and growth of bones and teeth. People with CCD have abnormal or missing collarbones, which allows them to bring their shoulders close together in front of their chest. They also have delayed closure of the gaps between the bones of the skull, which results in a large and prominent forehead. CCD can cause various dental problems, such as delayed eruption of permanent teeth, extra teeth, or poorly aligned teeth. Some people with CCD may also have other skeletal abnormalities, such as short stature, curved spine, or malformed pelvis.
Cleidocranial Dysplasia (CCD) is a rare genetic disorder that affects the development and growth of teeth and bones such as the skull, face, spine, collarbones, and legs<ref>Kolokitha OE, Ioannidou I. [https://bmcresnotes.biomedcentral.com/articles/10.1186/1756-0500-6-6 A 13-year-old Caucasian boy with cleidocranial dysplasia: a case report]. BMC research notes. 2013 Dec;6:1-6. </ref>. The name “cleidocranial dysplasia” comes from “cleido,” which refers to the collarbones, and “cranial,” which refers to the skull<ref>Ickow IM. Cleidocranial dysplasia (CCD) [Internet]. 2021. Available from: <nowiki>https://www.hopkinsmedicine.org/health/conditions-and-diseases/cleidocranial-dysplasia-ccd</nowiki></ref>. It is also known as Scheuthauer- Marie-Sainton syndrome<ref>Kuruvila VE, Bilahari N, Attokkaran G, Kumari B. [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3532802/#:~:text=Scheuthauer%2DMarie%2DSainton%20syndrome%20also,reported%20by%20Meckel%20in%201760. Scheuthauer-Marie-Sainton syndrome]. Contemporary Clinical Dentistry. 2012 Jul;3(3):338.</ref>, People with CCD have abnormal or missing collarbones, which allow them to bring their shoulders close together in front of their chest<ref name=":0">[https://medlineplus.gov/genetics/condition/cleidocranial-dysplasia/ Cleidocranial dysplasia]: Medlineplus Genetics [Internet]. U.S. National Library of Medicine;</ref>. They also have delayed closure of the gaps between the bones of the skull, which results in a large and prominent forehead<ref name=":0" />. CCD can cause various dental problems, such as delayed eruption of permanent teeth, extra teeth, or poorly aligned teeth. Some people with CCD may also have other skeletal abnormalities, such as short stature, curved spine, or malformed pelvis.


CCD is caused by mutations in the RUNX2 gene, which is involved in the formation of bone and cartilage cells. The condition is inherited in an autosomal dominant manner, which means that one copy of the mutated gene is enough to cause the disorder. However, some cases of CCD occur randomly due to new mutations in the gene. The severity and features of CCD can vary widely among affected individuals, even within the same family.
CCD is either inherited or caused by mutations in the RUNX2 gene,<ref>Dalle Carbonare L, Antoniazzi F, Gandini A, Orsi S, Bertacco J, Li Vigni V, Minoia A, Griggio F, Perduca M, Mottes M, Valenti MT. [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8508986/ Two Novel C-Terminus RUNX2 Mutations in Two Cleidocranial Dysplasia (CCD) Patients Impairing p53 Expression]. International Journal of Molecular Sciences. 2021 Sep 25;22(19):10336.</ref> which is involved in the formation of bone and cartilage cells. The condition is inherited in an autosomal dominant manner, which means that one copy of the mutated gene is enough to cause the disorder. However, some cases of CCD occur randomly due to new mutations in the gene. The severity and features of CCD can vary widely among affected individuals, even within the same family.


CCD is diagnosed based on the physical examination and X-ray findings. Genetic testing can confirm the diagnosis by detecting a mutation in the RUNX2 gene. There is no cure for CCD, but treatments can help manage the symptoms and complications. These may include surgery to correct bone deformities, dental care to improve oral health and appearance, and devices to protect the skull and prevent injuries. People with CCD have a normal life expectancy and intelligence.
== Epidemiology ==
Cleidocranial dysplasia (CCD) is a rare genetic disorder that affects the development of bones and teeth. It is estimated to have a prevalence of approximately 1 in 1,000,000 individuals worldwide<ref>Cano-Pérez E, Gómez-Alegría C, Herrera FP, Gómez-Camargo D, Malambo-García D. [https://www.sciencedirect.com/science/article/pii/S2049080122003715 Demographic, clinical, and radiological characteristics of cleidocranial dysplasia: A systematic review of cases reported in south America]. Annals of Medicine and Surgery. 2022 Apr 10:103611.</ref>.


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It is considered a rare or orphan disease within the group of primary bone dysplasias.<ref>Segovia‐Fuentes JI, Egurrola‐Pedraza JA, Castro‐Mendoza EJ, Cano‐Pérez E, Gómez‐Camargo DE, Malambo‐García DI. [https://onlinelibrary.wiley.com/doi/full/10.1002/ccr3.5235 Clinical‐radiological approach for the diagnosis of cleidocranial dysplasia in adults: A familial cases series]. Clinical Case Reports. 2021 Dec;9(12):e05235.</ref>
 
The disorder is found in many ethnic groups, and no sex predilection has been reported. It may be underdiagnosed because of the number of relatively mild cases<ref>INSERM US14 -- ALL RIGHTS RESERVED [Internet]. . Available from: <nowiki>https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=1452&Lng=GB</nowiki></ref>.


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Introduction[edit | edit source]

Cleidocranial Dysplasia (CCD) is a rare genetic disorder that affects the development and growth of teeth and bones such as the skull, face, spine, collarbones, and legs[1]. The name “cleidocranial dysplasia” comes from “cleido,” which refers to the collarbones, and “cranial,” which refers to the skull[2]. It is also known as Scheuthauer- Marie-Sainton syndrome[3], People with CCD have abnormal or missing collarbones, which allow them to bring their shoulders close together in front of their chest[4]. They also have delayed closure of the gaps between the bones of the skull, which results in a large and prominent forehead[4]. CCD can cause various dental problems, such as delayed eruption of permanent teeth, extra teeth, or poorly aligned teeth. Some people with CCD may also have other skeletal abnormalities, such as short stature, curved spine, or malformed pelvis.

CCD is either inherited or caused by mutations in the RUNX2 gene,[5] which is involved in the formation of bone and cartilage cells. The condition is inherited in an autosomal dominant manner, which means that one copy of the mutated gene is enough to cause the disorder. However, some cases of CCD occur randomly due to new mutations in the gene. The severity and features of CCD can vary widely among affected individuals, even within the same family.

Epidemiology[edit | edit source]

Cleidocranial dysplasia (CCD) is a rare genetic disorder that affects the development of bones and teeth. It is estimated to have a prevalence of approximately 1 in 1,000,000 individuals worldwide[6].

It is considered a rare or orphan disease within the group of primary bone dysplasias.[7]

The disorder is found in many ethnic groups, and no sex predilection has been reported. It may be underdiagnosed because of the number of relatively mild cases[8].

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References[edit | edit source]

  1. ↑ Kolokitha OE, Ioannidou I. A 13-year-old Caucasian boy with cleidocranial dysplasia: a case report. BMC research notes. 2013 Dec;6:1-6.
  2. ↑ Ickow IM. Cleidocranial dysplasia (CCD) [Internet]. 2021. Available from: https://www.hopkinsmedicine.org/health/conditions-and-diseases/cleidocranial-dysplasia-ccd
  3. ↑ Kuruvila VE, Bilahari N, Attokkaran G, Kumari B. Scheuthauer-Marie-Sainton syndrome. Contemporary Clinical Dentistry. 2012 Jul;3(3):338.
  4. ↑ 4.0 4.1 Cleidocranial dysplasia: Medlineplus Genetics [Internet]. U.S. National Library of Medicine;
  5. ↑ Dalle Carbonare L, Antoniazzi F, Gandini A, Orsi S, Bertacco J, Li Vigni V, Minoia A, Griggio F, Perduca M, Mottes M, Valenti MT. Two Novel C-Terminus RUNX2 Mutations in Two Cleidocranial Dysplasia (CCD) Patients Impairing p53 Expression. International Journal of Molecular Sciences. 2021 Sep 25;22(19):10336.
  6. ↑ Cano-Pérez E, Gómez-Alegría C, Herrera FP, Gómez-Camargo D, Malambo-García D. Demographic, clinical, and radiological characteristics of cleidocranial dysplasia: A systematic review of cases reported in south America. Annals of Medicine and Surgery. 2022 Apr 10:103611.
  7. ↑ Segovia‐Fuentes JI, Egurrola‐Pedraza JA, Castro‐Mendoza EJ, Cano‐Pérez E, Gómez‐Camargo DE, Malambo‐García DI. Clinical‐radiological approach for the diagnosis of cleidocranial dysplasia in adults: A familial cases series. Clinical Case Reports. 2021 Dec;9(12):e05235.
  8. ↑ INSERM US14 -- ALL RIGHTS RESERVED [Internet]. . Available from: https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=1452&Lng=GB
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