Cleidocranial dysostosis: Difference between revisions
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{{Infobox medical condition | |||
| name = Cleidocranial dysostosis | |||
| image = [[File:Marie_et_Sainton_1.jpg|250px]] | |||
| caption = A patient with cleidocranial dysostosis | |||
| synonyms = [[Cleidocranial dysplasia]], [[Marie-Sainton syndrome]] | |||
| pronounce = | |||
| specialty = [[Medical genetics]] | |||
| symptoms = [[Delayed closure of cranial sutures]], [[absent clavicles]], [[dental abnormalities]] | |||
| complications = [[Hearing loss]], [[scoliosis]], [[respiratory issues]] | |||
| onset = [[Congenital]] | |||
| duration = [[Lifelong]] | |||
| types = | |||
| causes = [[Genetic mutation]] in the [[RUNX2]] gene | |||
| risks = | |||
| diagnosis = [[Clinical examination]], [[genetic testing]] | |||
| differential = [[Pycnodysostosis]], [[osteogenesis imperfecta]] | |||
| prevention = | |||
| treatment = [[Orthodontic treatment]], [[surgery]] | |||
| medication = | |||
| prognosis = Generally good with treatment | |||
| frequency = 1 in 1,000,000 | |||
| deaths = | |||
}} | |||
'''Cleidocranial dysostosis''' ('''CCD'''), also known as '''Cleidocranial dysplasia''', is a rare genetic disorder primarily affecting bone and dental development. It is inherited in an [[autosomal dominant]] manner, typically resulting from mutations in the [[RUNX2 gene]]<ref>{{cite journal |last1=Lee |first1=B |title=Cleidocranial dysplasia |journal=Orphanet Journal of Rare Diseases |volume=1 |issue=1 |pages=15 |year=2006 |doi=10.1186/1750-1172-1-15 |pmid=16722557}}</ref>. | '''Cleidocranial dysostosis''' ('''CCD'''), also known as '''Cleidocranial dysplasia''', is a rare genetic disorder primarily affecting bone and dental development. It is inherited in an [[autosomal dominant]] manner, typically resulting from mutations in the [[RUNX2 gene]]<ref>{{cite journal |last1=Lee |first1=B |title=Cleidocranial dysplasia |journal=Orphanet Journal of Rare Diseases |volume=1 |issue=1 |pages=15 |year=2006 |doi=10.1186/1750-1172-1-15 |pmid=16722557}}</ref>. | ||
==Clinical Presentation== | ==Clinical Presentation== | ||
Characteristics of CCD include skeletal and dental abnormalities. The most characteristic features are underdeveloped or absent [[clavicles]] (collar bones), which results in individuals being able to bring their shoulders together in front of their body. Dental anomalies, including delayed loss of primary teeth and delayed eruption of secondary teeth, are common. Other features include delayed or incomplete closure of the [[fontanelles]], a prominent forehead, wide-set eyes ([[hypertelorism]]), a flat nose, and a short stature. Spinal abnormalities, such as [[scoliosis]], may also occur<ref>{{cite book |last1=Brunner |first1=HG |title=GeneReviews |chapter=Cleidocranial Dysplasia |publisher=University of Washington, Seattle |year=2018 |url=https://www.ncbi.nlm.nih.gov/books/NBK1513/}}</ref>. | Characteristics of CCD include skeletal and dental abnormalities. The most characteristic features are underdeveloped or absent [[clavicles]] (collar bones), which results in individuals being able to bring their shoulders together in front of their body. Dental anomalies, including delayed loss of primary teeth and delayed eruption of secondary teeth, are common. Other features include delayed or incomplete closure of the [[fontanelles]], a prominent forehead, wide-set eyes ([[hypertelorism]]), a flat nose, and a short stature. Spinal abnormalities, such as [[scoliosis]], may also occur<ref>{{cite book |last1=Brunner |first1=HG |title=GeneReviews |chapter=Cleidocranial Dysplasia |publisher=University of Washington, Seattle |year=2018 |url=https://www.ncbi.nlm.nih.gov/books/NBK1513/}}</ref>. | ||
==Genetics== | ==Genetics== | ||
CCD is caused by mutations in the RUNX2 gene, located on chromosome 6p21. RUNX2 is essential for the development of [[osteoblasts]], the cells responsible for bone formation<ref>{{cite journal |last1=Otto |first1=F |title=CBFA1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development |journal=Cell |volume=89 |issue=5 |pages=765-771 |year=1997 |pmid=9182762 |doi=10.1016/S0092-8674(00)80259-7}}</ref>. | CCD is caused by mutations in the RUNX2 gene, located on chromosome 6p21. RUNX2 is essential for the development of [[osteoblasts]], the cells responsible for bone formation<ref>{{cite journal |last1=Otto |first1=F |title=CBFA1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development |journal=Cell |volume=89 |issue=5 |pages=765-771 |year=1997 |pmid=9182762 |doi=10.1016/S0092-8674(00)80259-7}}</ref>. | ||
==Diagnosis and Management== | ==Diagnosis and Management== | ||
Diagnosis of CCD is primarily based on clinical examination and radiographic findings, but can be confirmed by genetic testing. Management of CCD is mainly supportive and involves a multidisciplinary approach, including orthopedic management for skeletal anomalies and dental interventions for oral health. | |||
Diagnosis of CCD is primarily based on clinical examination and radiographic findings, but can be confirmed by genetic testing. Management of CCD is mainly supportive and involves a multidisciplinary approach, including orthopedic management for skeletal anomalies and dental interventions for oral health< | ==Gallery== | ||
<gallery> | |||
File:Marie_et_Sainton_1.jpg|Cleidocranial dysostosis | |||
File:Marie_et_Sainton_2.jpg|Cleidocranial dysostosis | |||
File:Cleidocranial2.jpg|Cleidocranial dysostosis | |||
File:Cleidocranial_dysplasia_teeth.jpg|Cleidocranial dysplasia teeth | |||
File:Cleidocranial.jpg|Cleidocranial dysostosis | |||
</gallery> | |||
==See Also== | ==See Also== | ||
* [[RUNX2]] | * [[RUNX2]] | ||
* [[Autosomal dominant]] | * [[Autosomal dominant]] | ||
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{{rarediseases}} | {{rarediseases}} | ||
Latest revision as of 01:56, 5 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
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| Cleidocranial dysostosis | |
|---|---|
| |
| Synonyms | Cleidocranial dysplasia, Marie-Sainton syndrome |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | Delayed closure of cranial sutures, absent clavicles, dental abnormalities |
| Complications | Hearing loss, scoliosis, respiratory issues |
| Onset | Congenital |
| Duration | Lifelong |
| Types | |
| Causes | Genetic mutation in the RUNX2 gene |
| Risks | |
| Diagnosis | Clinical examination, genetic testing |
| Differential diagnosis | Pycnodysostosis, osteogenesis imperfecta |
| Prevention | |
| Treatment | Orthodontic treatment, surgery |
| Medication | |
| Prognosis | Generally good with treatment |
| Frequency | 1 in 1,000,000 |
| Deaths | |
Cleidocranial dysostosis (CCD), also known as Cleidocranial dysplasia, is a rare genetic disorder primarily affecting bone and dental development. It is inherited in an autosomal dominant manner, typically resulting from mutations in the RUNX2 gene<ref>,
Cleidocranial dysplasia, Orphanet Journal of Rare Diseases, 2006, Vol. 1(Issue: 1), pp. 15, DOI: 10.1186/1750-1172-1-15, PMID: 16722557,</ref>.
Clinical Presentation[edit]
Characteristics of CCD include skeletal and dental abnormalities. The most characteristic features are underdeveloped or absent clavicles (collar bones), which results in individuals being able to bring their shoulders together in front of their body. Dental anomalies, including delayed loss of primary teeth and delayed eruption of secondary teeth, are common. Other features include delayed or incomplete closure of the fontanelles, a prominent forehead, wide-set eyes (hypertelorism), a flat nose, and a short stature. Spinal abnormalities, such as scoliosis, may also occur<ref>,
GeneReviews. online version, University of Washington, Seattle, 2018,</ref>.
Genetics[edit]
CCD is caused by mutations in the RUNX2 gene, located on chromosome 6p21. RUNX2 is essential for the development of osteoblasts, the cells responsible for bone formation<ref>,
CBFA1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development, Cell, 1997, Vol. 89(Issue: 5), pp. 765-771, DOI: 10.1016/S0092-8674(00)80259-7, PMID: 9182762,</ref>.
Diagnosis and Management[edit]
Diagnosis of CCD is primarily based on clinical examination and radiographic findings, but can be confirmed by genetic testing. Management of CCD is mainly supportive and involves a multidisciplinary approach, including orthopedic management for skeletal anomalies and dental interventions for oral health.
Gallery[edit]
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Cleidocranial dysostosis -
Cleidocranial dysostosis -
Cleidocranial dysostosis -
Cleidocranial dysplasia teeth -
Cleidocranial dysostosis
See Also[edit]
References[edit]
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NIH genetic and rare disease info[edit]
Cleidocranial dysostosis is a rare disease.
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Rare diseases - Cleidocranial dysostosis
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