|Medical Terms||Other Names||
|1%-4% of people have these symptoms|
|Percent of people who have these symptoms is not available through HPO|
Short fingers or toes
Abnormal development of the ends of long bones in arms and legs
|Flat capital femoral epiphysis||
Flat end part of innermost thighbone
|Hypoplasia of the femoral head||
Small head of thigh bone
|Limited elbow flexion||0006376|
|Multiple epiphyseal dysplasia||0002654|
Shortened long bone of hand
Decreased body height
Small stature[ more ]
Clubfoot[ 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.