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|
Flared wide portion of long bone
Impaired gait[ more ]
Decreased body height
Small stature[ more ]
|30%-79% of people have these symptoms|
|Delayed skeletal maturation||
Delayed bone maturation
Delayed skeletal development[ more ]
|Depressed nasal bridge||
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root[ more ]
Round back[ more ]
|Limitation of joint mobility||
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion[ more ]
Abnormal curving of the spine
Decreased length of neck
|5%-29% of people have these symptoms|
|Abnormality of epiphysis morphology||
Abnormal shape of end part of bone
|Hypoplasia of the odontoid process||0003311|
Low chest circumference
Narrow shoulders[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Abnormality of the face||
Facial abnormality[ more ]
|Abnormality of the foot||
Abnormal feet morphology
Abnormality of the feet
Foot deformity[ more ]
|Abnormality of the rib cage||0001547|
|Carpal bone hypoplasia||
Small carpal bones
Small carpals[ more ]
|Disproportionate short-trunk short stature||
Disproportionate short-trunked dwarfism
Disproportionate short-trunked short stature
Short-trunked dwarfism[ more ]
|Flat acetabular roof||0003180|
|Irregular acetabular roof||0008833|
|Irregular, rachitic-like metaphyses||0005042|
|Severe carpal ossification delay||0006069|
Waddling walk[ more ]
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.
National DNA Day Reddit "Ask Me Anything" (AMA) Series
April 11, 2018
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