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 dental color||
Abnormality of tooth color
Abnormality of tooth shade[ more ]
|Abnormality of dental enamel||
Abnormal tooth enamel
Enamel abnormality[ more ]
|Abnormality of the metaphysis||
Abnormality of the wide portion of a long bone
|Abnormality of tibia morphology||
Abnormality of the shankbone
Abnormality of the shinbone[ more ]
Whites of eyes are a bluish-gray color
Short and broad skull
Tooth decay[ more ]
|Convex nasal ridge||
Polly beak nasal deformity[ more ]
|Decreased skull ossification||
Decreased bone formation of skull
Thickening of shaft or central part of long bones
Impaired gait[ more ]
|Intrauterine growth retardation||
Prenatal growth deficiency
Prenatal growth retardation[ more ]
Increased size of skull
Large head circumference[ more ]
Little lower jaw
Small lower jaw[ more ]
Prominent back of the skull
Prominent posterior skull[ more ]
|30%-79% of people have these symptoms|
|Abnormal cortical bone morphology||0003103|
|Biconcave vertebral bodies||0004586|
Sweating, increased[ more ]
Joints move beyond expected range of motion
Low chest circumference
Narrow shoulders[ more ]
|Slender long bone||
Long bones slender
Thin long bones[ more ]
Face with broad temples and narrow chin
Triangular facial shape[ more ]
Loss of eyesight
Poor vision[ more ]
|5%-29% of people have these symptoms|
|Abnormal endocardium morphology||0004306|
Hearing defect[ more ]
Round back[ more ]
Smaller or shorter than typical limbs
Increased fracture rate
Multiple spontaneous fractures
Varying degree of multiple fractures[ more ]
Decreased body height
Small stature[ more ]
Low platelet count
Extra bones within cranial sutures
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your 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 in utero diagnosis of chondrodysplasia, idiopathic juvenile osteoporosis, osteoporosis-pseudoglioma syndrome, Cole-Carpenter and Bruck syndromes, hyper or hypophosphatasia, panostotic form of polyostotic fibrous dysplasia (see these terms), non-accidental injury (multiple fractures without osteoporosis), and osteoporosis due to medication, nutritional deficiency, metabolic disease, or leukemia. The presence of several fractures should not lead to the assumption of child abuse.
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.
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