Orpha Number: 2098
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|
|Aplasia of the middle phalanges of the toes||
Absent middle toe bones
|Aplasia/Hypoplasia involving the metacarpal bones||
Absent/small long bones of hand
Absent/underdeveloped long bones of hand[ more ]
|Bowing of the long bones||
Bowed long bones
Bowing of long bones[ more ]
Short fingers or toes
Short limb dwarfism, disproportionate
Short-limbed dwarfism[ more ]
Stiff joints[ more ]
Smaller or shorter than typical limbs
Cancer of connective tissue
Malignant connective tissue tumor[ more ]
Small feet[ more ]
Stubby toes[ more ]
|Synostosis of carpal bones||
Fusion of wrist bones
Fused ankle bones
|30%-79% of people have these symptoms|
|Aplasia/Hypoplasia of the thumb||
Absent/underdeveloped thumb[ more ]
Short calf bone
Extra little finger
Extra pinkie finger
Extra pinky finger[ more ]
Short skankbone[ more ]
|5%-29% of people have these symptoms|
|Death in infancy||
Lethal in infancy[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Aplasia/Hypoplasia of metatarsal bones||
Absent/small long bone of foot
Absent/underdeveloped long bone of foot[ more ]
|Aplasia/Hypoplasia of the patella||
Absent/underdeveloped kneecap[ more ]
|Hypoplasia of the radius||
Underdeveloped outer large forearm bone
|Hypoplasia of the ulna||
Underdeveloped inner large forearm bone
Short long bone of upper arm
Short upper arms[ more ]
|Short phalanx of finger||
Short finger bones
|Valgus hand deformity||0006228|
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.
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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