The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of the clavicle||90%|
|Abnormality of the shoulder||90%|
|Increased number of teeth||90%|
|Recurrent respiratory infections||90%|
|Abnormality of the ribs||50%|
|Abnormality of the sacrum||50%|
|Decreased skull ossification||50%|
|Delayed eruption of teeth||50%|
|Reduced bone mineral density||50%|
|Abnormality of epiphysis morphology||7.5%|
|Abnormality of pelvic girdle bone morphology||7.5%|
|Abnormality of the thumb||7.5%|
|Abnormal facility in opposing the shoulders||-|
|Absent frontal sinuses||-|
|Absent paranasal sinuses||-|
|Autosomal dominant inheritance||-|
|Cone-shaped epiphyses of the phalanges of the hand||-|
|Delayed eruption of permanent teeth||-|
|Delayed eruption of primary teeth||-|
|Delayed pubic bone ossification||-|
|Depressed nasal bridge||-|
|Hypoplasia of dental enamel||-|
|Hypoplastic frontal sinuses||-|
|Hypoplastic iliac wing||-|
|Increased bone mineral density||-|
|Increased susceptibility to fractures||-|
|Large foramen magnum||-|
|Long second metacarpal||-|
|Moderately short stature||-|
|Neonatal respiratory distress||-|
|Persistent open anterior fontanelle||-|
|Short femoral neck||-|
|Short middle phalanx of the 2nd finger||-|
|Short middle phalanx of the 5th finger||-|
|Wide pubic symphysis||-|
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.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Suggest an organization to add.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
18th International RUNX Workshop Sunday, August 14, 2011 -
Wednesday, August 17, 2011
Location: Eleanor Roosevelt College, University of California, San Diego, La Jolla, CA
Description: Based on the long-standing interactive and inter-disciplinary traditions of the 17 previous RUNX workshops, the organizers anticipate that the 18th International RUNX Workshop will offer excellent opportunities for the cross-pollination of ideas and the development of new collaborations in this rapidly expanding field.
Contact: Dr. Yvonne Douglas-Tabor(301) 496-1785
Co-funding Institute(s): National Cancer Institute, Office of Rare Diseases Research
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. Submit a new question
I am 60 years old, and have not been diagnosed with this. However I have lived in the dark with many of the symptoms. I live in constant pain, and numerous doctors over the years could not tell me what is wrong with me. My question is how and where can I get genetic testing? It's too late for any help for me, however my daughter is about to have her first child, and I am worried my granddaughter may have the RUN2 gene. See answer
My 25-year-old son has cleidocranial dysplasia. His condition is mild, but he has endured treatments for hearing loss and orthodontic conditions. We were told at the time of his diagnosis that his children would have a 50/50 chance of inheriting this condition. Is that still the case? Are there any treatments or therapies to prevent him from passing this on?
My daughter and I have cleidocranial dysplasia. Can you help us with information on treatment of our disease?