Orpha Number: 93388
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|
Small feet[ more ]
Short big toe
|Short middle phalanx of finger||
Short middle bone of finger
Decreased body height
Small stature[ more ]
Small thumbs[ more ]
|30%-79% of people have these symptoms|
Cone-shaped end part of bone
|5%-29% of people have these symptoms|
Wide long bones of hand
|Clinodactyly of the 5th finger||
Permanent curving of the pinkie finger
|Distal symphalangism of hands||
Fused outermost bones of hand
|Hypoplasia of the ulna||
Underdeveloped inner large forearm bone
Clubfoot[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Absent distal interphalangeal creases||0001032|
Short fingers or toes
|Broad metacarpal epiphyses||
Broad end part of long bone of hand
Wide palm[ more ]
|Flattened metatarsal heads||
Flattened head of long bone of foot
|Proportionate shortening of all digits||0006165|
|Radial deviation of the 2nd finger||0009467|
|Radial deviation of the 3rd finger||
Inward turned middle finger
|Radial deviation of the 4th finger||0009279|
|Short distal phalanx of finger||
Short outermost finger bone
Shortened long bone of hand
|Short proximal phalanx of hallux||
Short innermost big toe bone
|Short proximal phalanx of thumb||0009638|
Slender long bones of hand
|Thin proximal phalanges with broad epiphyses of the hand||
Thin innermost bone with broad end part of the hand bone
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.
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.
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