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||
|100% of people have these symptoms|
|Connective tissue nevi||0100898|
|80%-99% of people have these symptoms|
|Abnormality of epiphysis morphology||
Abnormal shape of end part of bone
|Abnormality of the metaphysis||
Abnormality of the wide portion of a long bone
Pale pigmentation[ more ]
Decreased body height
Small stature[ more ]
Firm lump under the skin
|30%-79% of people have these symptoms|
Stiff joints[ more ]
|5%-29% of people have these symptoms|
|Abnormal aortic morphology||0001679|
|Abnormality of the dentition||
Dental abnormality[ more ]
|Atypical scarring of skin||
|Diffuse skin atrophy||0007488|
|Generalized limb muscle atrophy||
Generalized muscle wasting
Hearing defect[ more ]
Husky voice[ more ]
Muscle pain[ more ]
Increased fracture rate
Multiple spontaneous fractures
Varying degree of multiple fractures[ more ]
Renal failure in adulthood[ more ]
Squint eyes[ more ]
Loss of eyesight
Poor vision[ more ]
|1%-4% of people have these symptoms|
Webbed skin of fingers[ more ]
|Percent of people who have these symptoms is not available through HPO|
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.
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
These bone lesions should be differentiated from melorheostosis and sclerotic bone metastases. Osteopoikilosis also occurs as an isolated finding in individuals without a family history of BOS, as well as in association with other sclerosing dysplasias and as part of the 12q14 microdeletion syndrome (see these terms).
Visit the Orphanet disease page for more information.
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 am a dermatologist and I have a patient requesting patient-friendly information on this condition. Can you provide this and direct me to some appropriate resources? See answer