The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of the hip bone||90%|
|Abnormality of the metacarpal bones||90%|
|Abnormality of the metaphyses||90%|
|Delayed skeletal maturation||90%|
|Limitation of joint mobility||50%|
|Hypoplasia of the odontoid process||7.5%|
|Autosomal dominant inheritance||-|
|Beaking of vertebral bodies||-|
|Carpal bone hypoplasia||-|
|Cervical cord compression||-|
|Childhood onset short-limb short stature||-|
|Degenerative joint disease||-|
|Delayed epiphyseal ossification||-|
|Disproportionate short-limb short stature||-|
|Flared femoral metaphysis||-|
|Fragmented, irregular epiphyses||-|
|Irregular carpal bones||-|
|Limited elbow extension||-|
|Limited hip extension||-|
|Radial metaphyseal irregularity||-|
|Short distal phalanx of finger||-|
|Short long bone||-|
|Small epiphyses of the phalanges of the hand||-|
|Ulnar deviation of the hand||-|
|Ulnar deviation of the wrist||-|
|Ulnar metaphyseal irregularity||-|
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.
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.
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.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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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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