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 form of the vertebral bodies||0003312|
Short fingers or toes
|Childhood onset short-limb
Stubby toes[ more ]
|30%-79% of people have these symptoms|
|Abnormality of femur morphology||
Abnormality of the thighbone
Abnormal shape of pelvic girdle bone
|Abnormality of the elbow||
Abnormality of the elbows
|Abnormality of the metaphysis||
Abnormality of the wide portion of a long bone
|5%-29% of people have these symptoms|
Darkened and thickened skin
Mental retardation, nonspecific
Mental-retardation[ more ]
Increased size of skull
Large head circumference[ more ]
Degenerative joint disease
Abnormal curving of the spine
|Spinal canal stenosis||
Narrow spinal canal
|Percent of people who have these symptoms is not available through HPO|
|Aplasia/hypoplasia of the extremities||
Absent/underdeveloped extremities[ more ]
Flared wide portion of long bone
|Limited elbow extension||
Decreased elbow extension
Elbow limited extension
Limitation of elbow extension
Limited extension at elbows
Limited forearm extension
Restricted elbow extension[ more ]
|Short long bone||
Long bone shortening
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.
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
Hypochondroplasia closely resembles achondroplasia (also caused by mutations in the FGFR3 gene; see this term), although the short stature and skeletal disproportion are clearly less pronounced in hypochondroplasia and the two conditions can be differentiated on the basis of the milder radiological findings in hypochondroplasia.
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
Are there any associated problems with mucosal tissue (frequent, severe nosebleeds) with this disorder. Would later closure of fontanelle (after 18 months) be associated with this syndrome? Are cognitive or speech-language symptoms associated with the syndrome? See answer
What is the treatment? Is there a way to improve the bone growth? See answer