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|
|Abnormal cortical bone morphology||0003103|
|Abnormality of epiphysis morphology||
Abnormal shape of end part of bone
|30%-79% of people have these symptoms|
|Abnormal hair quantity||0011362|
|Abnormality of the fingernails||
|Clubbing of toes||
Clubbing of feet
|Coarse facial features||
Coarse facial appearance
|Cutis gyrata of scalp||
Furrows in thickened skin on top of scalp
Thickened folds on top of scalp[ more ]
|Limitation of joint mobility||
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion[ more ]
Drooping upper eyelid
|5%-29% of people have these symptoms|
|Abnormal hair pattern||
Abnormal distribution of hair
|Abnormality of bone marrow
Low number of red blood cells or hemoglobin
Enlarged male breast
|Impaired temperature sensation||
Abnormality of temperature sensation
Loss of temperature sensation[ more ]
|Neoplasm of the skin||
Tumor of the skin[ more ]
Abnormal curving of the spine
Disproportionately small hands
Increased spleen size
|Percent of people who have these symptoms is not available through HPO|
Clubbing of fingers and toes
|Clubbing of fingers||
Finger clubbing[ more ]
Symptoms present at birth
|Disproportionate tall stature||0001519|
Increased palatal height[ more ]
Sweating, increased[ more ]
|Osteolytic defects of the phalanges of the hand||0009771|
|Patent ductus arteriosus||0001643|
|Periosteal thickening of long tubular bones||0006465|
Loose redundant skin
Redundant skin folds
Sagging, redundant skin[ more ]
Increased thickness of skull cap
Thickened skull cap[ more ]
Extra bones within cranial sutures
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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 cranio-osteoarthropathy (see this term), secondary hypertrophic osteoarthropathy, chronic recurrent multifocal osteomyelitis, SAPHO and Camurati-Engelman disease (see these terms), thyroid acropachy and syphilitic periostosis.
Visit the Orphanet disease page for more information.
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 was diagnosed by several doctors with different diagnoses: cancer, osteomyelitis and several other bone diseases. The last doctor gave me the diagnosis of Touraine Solente Gole Syndrome. The doctor told me that I will not die, but this disease has no treatment and that I must support the pain. I want to know if there is treatment for this disease or what could make my pain go away. See answer