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 epiphysis morphology||
Abnormal shape of end part of bone
|Abnormality of the hip bone||
Abnormality of the hips
|Abnormality of the metaphysis||
Abnormality of the wide portion of a long bone
|Delayed skeletal maturation||
Delayed bone maturation
Delayed skeletal development[ more ]
|Disproportionate short-limb short stature||
Short limb dwarfism, disproportionate
Short-limbed dwarfism[ more ]
|Irregular carpal bones||0004236|
Smaller or shorter than typical limbs
Shortened long bone of hand
|30%-79% of people have these symptoms|
Impaired gait[ more ]
Joints move beyond expected range of motion
Degenerative joint disease
Abnormal curving of the spine
Small feet[ more ]
|5%-29% of people have these symptoms|
Outward bowing at knees
Outward bow-leggedness[ more ]
|Hypoplasia of the odontoid process||0003311|
Round back[ more ]
|1%-4% of people have these symptoms|
|Beaking of vertebral bodies||0004568|
Short fingers or toes
Irregular end part 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 ]
|Limited shoulder movement||0006467|
|Percent of people who have these symptoms is not available through HPO|
|Carpal bone hypoplasia||
Small carpal bones
Small carpals[ more ]
|Cervical cord compression||0002341|
|Childhood onset short-limb short stature||0011405|
|Delayed epiphyseal ossification||0002663|
|Flared femoral metaphysis||0002834|
Fragmented end part of bone
|Fragmented, irregular epiphyses||
Fragmented, irregular end part of bone
Knee hyperextension[ more ]
Loosejointedness[ more ]
|Limited hip extension||
Restricted hip extension
Excessive inward curvature of lower spine
|Radial metaphyseal irregularity||0004019|
Damage to nerves that sense feeling
|Short distal phalanx of finger||
Short outermost finger bone
|Short long bone||
Long bone shortening
|Small epiphyses of the phalanges of the hand||
Small end part of finger bones
|Ulnar deviation of the hand||0009487|
|Ulnar deviation of the wrist||0003049|
|Ulnar metaphyseal irregularity||0004042|
Waddling walk[ more ]
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
The principle differential diagnosis is achondroplasia (see this term), but the craniofacial anomalies present in this disorder are absent in patients with pseudoachondroplasia and radiographic findings differ significantly. Forms of multiple epiphyseal dysplasia (see these terms) may also be included in the differential diagnosis.
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
Our grandson was diagnosed recently with this disease and I am wondering if you could send me information on it. As his grandmother, I would like to know what are the health risks down the road for him and how we can help him live with this disease. See answer
How do people inherit pseudoachondroplasia? See answer