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Cleidocranial dysplasia


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Other Names:
CLCD; Cleidocranial dysostosis; Dysplasia cleidocranial; CLCD; Cleidocranial dysostosis; Dysplasia cleidocranial; Marie-Sainton disease See More
Categories:
Congenital and Genetic Diseases; Mouth Diseases; Musculoskeletal Diseases
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Summary Summary


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Cleidocranial dysplasia (CCD) affects the development of the bones, skull, and teeth. Signs and symptoms include underdeveloped or absent collarbones (clavicles), dental abnormalities, and delayed closing of the spaces between the skull bones (fontanels). Other symptoms may include decreased bone density (osteopenia), hearing loss, bone abnormalities of the hands, and recurrent sinus and ear infections. People with CCD may develop curvature of the spine (scoliosis), osteoporosis, and may be shorter than average. CCD occurs due to a RUNX2 gene that is not working correctly and is inherited in an autosomal dominant pattern. Diagnosis is based on the symptoms, clinical exam, imaging studies, and genetic testings. Treatment is focused on managing the symptoms, and may include dental procedures and surgery.[1][2][3][4][5]
Last updated: 8/19/2020

Symptoms Symptoms


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The following list includes the most common signs and symptoms in people with cleidocranial dysplasia. These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom or feature that has been described in this condition.

Signs and symptoms may include:[1][2][4]
  • Delayed closure of the skull bones (open fontanelles)
  • Underdevelopment of the collarbones (clavicles)
  • Bone abnormalities in the hands
  • Abnormal teeth
  • Decreased bone density (osteopenia, osteoporosis)
Additional symptoms may include curvature of the spine, delayed growth, and hearing loss. People with cleidocranial dysplasia typically have average intelligence.
Last updated: 8/19/2020

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 85 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of dental enamel
Abnormal tooth enamel
Enamel abnormalities
Enamel abnormality
[ more ]
0000682
Carious teeth
Dental cavities
Tooth cavities
Tooth decay
[ more ]
0000670
Down-sloping shoulders
Rounded shoulders
Rounded, sloping shoulders
Sloping shoulders
[ more ]
0200021
Frontal bossing 0002007
High, narrow palate
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth
[ more ]
0002705
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ]
0000316
Hypoplasia of the zygomatic bone
Cheekbone underdevelopment
Decreased size of cheekbone
Underdevelopment of cheekbone
[ more ]
0010669
Hypoplastic inferior ilia 0008821
Increased number of teeth
Extra teeth
Increased tooth count
Supplemental teeth
[ more ]
0011069
Large fontanelles
Wide fontanelles
0000239
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ]
0000347
Narrow chest
Low chest circumference
Narrow shoulders
[ more ]
0000774
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ]
0002205
Short clavicles
Short collarbone
0000894
Short stature
Decreased body height
Small stature
[ more ]
0004322
Skeletal dysplasia 0002652
Sloping forehead
Inclined forehead
Receding forehead
[ more ]
0000340
Wormian bones
Extra bones within cranial sutures
0002645
30%-79% of people have these symptoms
Abnormal sacrum morphology 0005107
Abnormality of the metacarpal bones
Abnormality of the long bone of hand
0001163
Abnormality of the ribs
Rib abnormalities
0000772
Brachydactyly
Short fingers or toes
0001156
Chronic otitis media
Chronic infections of the middle ear
0000389
Decreased skull ossification
Decreased bone formation of skull
0004331
Delayed eruption of teeth
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ]
0000684
Depressed nasal bridge
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ]
0005280
Dimple chin
Chin butt
Chin dent
Chin dimple
Chin skin dimple
Indentation of chin
[ more ]
0010751
Hearing impairment
Deafness
Hearing defect
[ more ]
0000365
Mandibular prognathia
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw
[ more ]
0000303
Midface retrusion
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ]
0011800
Open bite
Absence of overlap of upper and lower teeth
Open bite between upper and lower teeth
[ more ]
0010807
Osteoporosis 0000939
Short face
Decreased height of face
Decreased length of face
Vertical shortening of face
[ more ]
0011219
Sinusitis
Sinus inflammation
0000246
Spina bifida occulta 0003298
5%-29% of people have these symptoms
Abnormal thumb morphology
Abnormality of the thumb
Abnormality of the thumbs
Thumb deformity
[ more ]
0001172
Abnormality of epiphysis morphology
Abnormal shape of end part of bone
0005930
Brachycephaly
Short and broad skull
0000248
Broad forehead
Increased width of the forehead
Wide forehead
[ more ]
0000337
Cleft palate
Cleft roof of mouth
0000175
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Coxa vara 0002812
Dystrophic fingernails
Poor fingernail formation
0008391
Dystrophic toenail
Poor toenail formation
0001810
Genu valgum
Knock knees
0002857
Glossoptosis
Retraction of the tongue
0000162
Hypoplastic scapulae
Small shoulder blade
0000882
Macrocephaly
Increased size of skull
Large head
Large head circumference
[ more ]
0000256
Recurrent fractures
Increased fracture rate
Increased fractures
Multiple fractures
Multiple spontaneous fractures
Varying degree of multiple fractures
[ more ]
0002757
Scoliosis 0002650
Sleep apnea
Pauses in breathing while sleeping
0010535
Tapered finger
Tapered fingertips
Tapering fingers
[ more ]
0001182
Percent of people who have these symptoms is not available through HPO
Abnormal facility in opposing the shoulders 0005259
Absent frontal sinuses 0002688
Absent paranasal sinuses
Missing paranasal sinuses
0002689
Aplastic clavicle
Absent collarbone
0006660
Autosomal dominant inheritance 0000006
Cervical ribs 0000891
Cone-shaped epiphyses of the phalanges of the hand
Cone-shaped end part of finger bones
0010230
Delayed eruption of permanent teeth
Delayed eruption of adult teeth
0000696
Delayed eruption of primary teeth
Delayed eruption of baby teeth
Delayed eruption of milk teeth
Late eruption of baby teeth
Late eruption of milk teeth
[ more ]
0000680
Delayed pubic bone ossification 0008788
Hypoplasia of dental enamel
Underdeveloped teeth enamel
0006297
Hypoplastic frontal sinuses 0002738
Hypoplastic iliac wing 0002866
Increased bone mineral density
Increased bone density
0011001
Increased susceptibility to fractures
Abnormal susceptibility to fractures
Bone fragility
Frequent broken bones
Increased bone fragility
Increased tendency to fractures
[ more ]
0002659
Kyphosis
Hunched back
Round back
[ more ]
0002808
Large foramen magnum
Big foramen magnum
0002700
Long second metacarpal
Long 2nd long bone of hand
0006040
Malar flattening
Zygomatic flattening
0000272
Moderately short stature
Moderate short stature
0008848
Neonatal respiratory distress
Infantile respiratory distress
Newborn respiratory distress
Respiratory distress, neonatal
[ more ]
0002643
Parietal bossing 0000242
Persistent open anterior fontanelle 0004474
Respiratory distress
Breathing difficulties
Difficulty breathing
[ more ]
0002098
Short femoral neck
Short neck of thighbone
0100864
Short middle phalanx of the 2nd finger
Short middle bone of index finger
0009577
Short middle phalanx of the 5th finger
Short middle bone of the little finger
Short middle bone of the pinkie finger
Short middle bone of the pinky finger
[ more ]
0004220
Short ribs 0000773
Spondylolisthesis
Displacement of one backbone compared to another
Slipped backbone
[ more ]
0003302
Spondylolysis 0003304
Syringomyelia
Fluid-filled cyst in spinal cord
0003396
Thickened calvaria
Increased thickness of skull cap
Thickened skull cap
[ more ]
0002684
Wide pubic symphysis 0003183
Showing of 85 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 1/1/2021

Cause Cause


Listen
Cleidocranial dysplasia (CCD) occurs when the RUNX2 gene is not working correctly. DNA changes known as pathogenic variants are responsible for making genes work incorrectly or sometimes, not at all.[1][3]
Last updated: 8/19/2020

Inheritance Inheritance


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Cleidocranial dysplasia is inherited in an autosomal dominant pattern.[1] All individuals inherit two copies of each gene. Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. Dominant means that only one altered copy of a gene is necessary to have the condition. The alteration can be inherited from either parent. Sometimes an autosomal dominant condition occurs because of a new genetic alteration (de novo) and there is no history of this condition in the family.
  
Each child of an individual with an autosomal dominant condition has a 50% or 1 in 2 chance of inheriting the alteration and the condition. Typically, children who inherit a dominant alteration will have the condition, but they may be more or less severely affected than their parent. Sometimes a person may have a gene alteration for an autosomal dominant condition and show no signs or symptoms of the condition.  

Last updated: 8/19/2020

Diagnosis Diagnosis


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Cleidocranial dysplasia (CCD) is diagnosed based on the symptoms, a clinical exam, imaging studies and the results of genetic testing. Imaging studies may include a skeletal survey (series of X-rays of the bones of the skeleton) and dental x-rays.[1][4]
Last updated: 8/19/2020

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
  • Orphanet lists international laboratories offering diagnostic testing for this condition.

Treatment Treatment


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Treatment of cleidocranial dysplasia (CCD) is focused on managing the symptoms. Most people with CCD need dental and orthodontic care due to various dental abnormalities. Surgery may be needed to correct more severe skeletal (bone) abnormalities.[1][5]

Specialists involved in the care of someone with cleidocranial dysplasia may include: 
  • Craniofacial surgeon
  • Dentist
  • Orthodontist
  • Endocrinologist
  • Otolaryngologist (ENT doctor)
  • Orthopedist
Last updated: 8/19/2020

Statistics Statistics


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It has been estimated that about 1 in one million people has cleidocranial dysplasia (CCD). In one study from Utah in the United States, about 12 per 100,000 people had CCD.[1]
Last updated: 8/19/2020
Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist


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If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Related Diseases Related Diseases


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Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include mandibuloacral dysplasia, Crane-Heise syndrome, Yunis-Varon syndrome, pycnodysostosis, CDAGS syndrome, and hypophosphatasia.
Visit the Orphanet disease page for more information.

Research Research


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Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. There is a study titled Evaluation and Treatment of Skeletal Diseases which may be of interest to you.
  • Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition. 
  • European Skeletal Dysplasia Network
    Institute of Genetic Medicine
    Newcastle University
    International Centre for Life
    Central Parkway
    New Castle upon Tyne
    NE1 3BZ, United Kingdom
    E-mail: info@esdn.org
    Website: http://www.esdn.org/eug/Home

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Cleidocranial dysplasia. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Cleidocranial dysplasia:
    International Skeletal Dysplasia Registry (ISDR)
     
  • Greenberg Center for Skeletal Dysplasias
    Johns Hopkins University
    McKusick-Nathans Institute of Genetic Medicine
    600 North Wolfe Street
    Baltimore, MD 21287
    Telephone: 410-614-0977
    Website: https://www.hopkinsmedicine.org/institute-genetic-medicine/patient-care/genetics-clinics/about/greenberg-center-skeletal-dysplasia/

Organizations Organizations


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Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

  • Ameriface
    PO Box 751112
    Las Vegas, NV 89136
    Toll-free: 888-486-1209
    Telephone: 702-769-9264
    E-mail: info@ameriface.org
    Website: http://www.ameriface.org
  • Children's Craniofacial Association
    13140 Coit Road Suite 517
    Dallas, TX 75240
    Toll-free: 1-800-535-3643
    Telephone: +1-214-570-9099
    Fax: +1-214-570-8811
    E-mail: contactCCA@ccakids.com
    Website: https://ccakids.org/
  • FACES: The National Craniofacial Association
    PO Box 11082
    Chattanooga, TN 37401
    Toll-free: 800-332-2373
    Telephone: 423-266-1632
    E-mail: faces@faces-cranio.org
    Website: http://www.faces-cranio.org/
  • Little People of America, Inc.
    617 Broadway #518
    Sonoma, CA 95476
    Toll-free: 1-888-572-2001
    Telephone: +1-714-368-3689
    Fax: +1-707-721-1896
    E-mail: info@lpaonline.org
    Website: https://www.lpaonline.org/

Social Networking Websites

  • Visit the following Facebook groups related to Cleidocranial dysplasia:
    Cleidocranial dysplasia (CCD) Family Support Group
    Parents with children with Cleidocranial Dysplasia
Do you know of an organization? We want to hear from you.

Learn More Learn More


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These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • Genetics Home Reference (GHR) contains information on Cleidocranial dysplasia. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Cleidocranial dysplasia. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References References


  1. Machol K, Mendoza-Londono R, Lee B. Cleidocranial Dysplasia Spectrum Disorder. GeneReviews. Updated Nov. 16, 2017; https://www.ncbi.nlm.nih.gov/books/NBK1513.
  2. Cooper SC, Flaitz CM, Johnston DA, Lee B, Hecht JT. A natural history of cleidocranial dysplasia. Am J Med Genet. 2001; 104(1):1-6. https://pubmed.ncbi.nlm.nih.gov/1174602.
  3. Dinçsoy Bir F, Dinçkan N, Güven Y, et al. Cleidocranial dysplasia: Clinical, endocrinologic and molecular findings in 15 patients from 11 families. Eur J Med Genet. 2017; 60(3):163-168. https://pubmed.ncbi.nlm.nih.gov/28027977.
  4. Farrow E, Nicot R, Wss A, Laborde A, Ferri J. Cleidocranial Dysplasia: A Review of Clinical, Radiological, Genetic Implications and a Guidelines Proposal. J Craniofac Surg. 2018; 29(2):382-389. https://pubmed.ncbi.nlm.nih.gov/29189406.
  5. Li J, Shen J, Xu J, Weng L, Pan J, Lin J. The Treatment Strategy of Cleidocranial Dysplasia: Combined Orthodontic and Orthognathic Treatment. J Craniofac Surg. 2019; 30(6):1767-1771. https://pubmed.ncbi.nlm.nih.gov/30950953.
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