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.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
|Abnormality of the humerus||0003063|
|Abnormality of the ulna||0002997|
|Aplasia/Hypoplasia of the radius||0006501|
|Cortical thickening of long bone diaphyses||0005791|
|Elevated aldolase level||0012544|
|30%-79% of people have these symptoms|
|Abnormality of tibia morphology||
Abnormality of the shankbone
Abnormality of the shinbone[ more ]
|Limitation of joint mobility||
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion[ more ]
|Skeletal muscle atrophy||
Muscle wasting[ more ]
Waddling walk[ more ]
|5%-29% of people have these symptoms|
|Abnormal facial shape||
Unusual facial appearance
|Abnormal subcutaneous fat
Abnormal fat tissue distribution below the skin
Abnormal shape of pelvic girdle bone
Tooth decay[ more ]
|Delayed eruption of teeth||
Delayed teeth eruption
Delayed tooth eruption
Late eruption of teeth
Late tooth eruption[ more ]
Delayed pubertal development
Delayed pubertal growth
Pubertal delay[ more ]
|Feeding difficulties in infancy||0008872|
Hearing defect[ more ]
Decreased activity of gonads
Round back[ more ]
Decreased blood leukocyte number
Low white blood cell count[ more ]
|Neurological speech impairment||
Speech impediment[ more ]
|Optic nerve compression||0007807|
Flat foot[ more ]
Eyeballs bulging out
Protruding eyes[ more ]
Abnormal curving of the spine
Increased spleen size
|Percent of people who have these symptoms is not available through HPO|
|Bone marrow hypocellularity||
Bone marrow failure
Increased bone density in shaft of long bone
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent lower jaw[ more ]
|Reduced subcutaneous adipose tissue||
Reduced fat tissue below the skin
|Sclerosis of skull base||
Dense bone of skull base
Within cells, the TGFβ-1 protein is turned off (inactive) until it receives a chemical signal to become active. The TGFB1 gene mutations that cause Camurati-Engelmann disease result in the production of a TGFβ-1 protein that is always turned on (active). Overactive TGFβ-1 proteins lead to increased bone density and decreased body fat and muscle tissue, contributing to the signs and symptoms of Camurati-Engelmann disease.
Some individuals with Camurati-Engelmnan disease do not have identified mutations in the TGFB1 gene. In these cases, the cause of the condition is unknown.
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.
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.
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.
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.
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 have had Camurati Engelmann disease since I was 5 years-old. I experience severe pain, headaches, and vision loss. Surgery has been recommended to treat the bone thickening in my skull. Will the skull bones grow back together following surgery? How can I learn more about medications, surgical procedures, and other treatments that have been effective in treating people Camurati Englemann disease? See answer
My mother-in-law was recently diagnosed with Camurati-Engelmann disease. Can you provide me with information about this condition? See answer