Orpha Number: 3246
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 | Learn More: HPO ID |
|---|---|---|
| 80%-99% of people have these symptoms | ||
| Reduced proximal interphalangeal joint space |
Decreased space in hinge joint
|
0006019 |
| Symphalangism of the 4th finger |
Fused ring finger bones
|
0004197 |
| Symphalangism of the 5th finger |
Fused little finger bones
Fused pinkie finger bones
Fused pinky finger bones
[ more ]
|
0004218 |
| 30%-79% of people have these symptoms | ||
| Absent distal interphalangeal creases | 0001032 | |
| Absent distal phalanges |
Absent outermost digital bones
|
0005807 |
| 0001156 | ||
| Clinodactyly | 0030084 | |
| Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ]
|
0000256 |
| Small hypothenar eminence | 0010487 | |
| Small thenar eminence | 0001245 | |
| Symphalangism affecting the phalanges of the toes |
Fused toe bones
|
0010179 |
| Toe |
Fused toes
Webbed toes
[ more ]
|
0001770 |
| 5%-29% of people have these symptoms | ||
| Abnormal palmar dermatoglyphics | 0001018 | |
| Aplasia/Hypoplasia of the distal phalanx of the 5th toe |
Absent/small outermost little toe bone
Absent/small outermost pinkie toe bone
Absent/small outermost pinky toe bone
Absent/underdeveloped outermost pinky toe bone
[ more ]
|
0100371 |
| Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ]
|
0000405 |
| Cutaneous syndactyly between fingers 2 and 5 | 0005650 | |
| Short distal phalanx of hallux |
Small outermost bone of big toe
|
0010103 |
| Percent of people who have these symptoms is not available through HPO | ||
| Absent dorsal skin creases over affected joints | 0001049 | |
| 0000006 | ||
| Clinodactyly of the 5th toe | 0001864 | |
| Cutaneous finger syndactyly |
Webbed fingers
Webbed skin of fingers
[ more ]
|
0010554 |
| Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
| Proximal symphalangism of hands |
Fused innermost hinge joints
|
0006152 |
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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