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||
|5%-29% of people have these symptoms|
|Delayed eruption of teeth||
Delayed teeth eruption
Delayed tooth eruption
Late eruption of teeth
Late tooth eruption[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Abnormality of the thorax||
Abnormality of the chest
|Absent paranasal sinuses||
Missing paranasal sinuses
Tooth decay[ more ]
|Hypoplastic frontal sinuses||0002738|
|Limited elbow extension||
Decreased elbow extension
Elbow limited extension
Limitation of elbow extension
Limited extension at elbows
Limited forearm extension
Restricted elbow extension[ more ]
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent lower jaw[ more ]
Broad wide portion of long bone
|Reduced bone mineral density||
Low solidness and mass of the bones
Abnormal curving of the spine
Increased thickness of skull cap
Thickened skull cap[ 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.
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
Erlenmeyer flask deformity is also a prominent feature of the autosomal dominant Braun-Tinschert type of metaphyseal dysplasia (see this term). The two conditions can be distinguished by the mode of inheritance and by the presence of marked varus deformity of the distal part of the radii in Braun-Tinschert metaphyseal dysplasia.
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.
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
What is Pyle disease? Is it genetic? See answer