Orpha Number: 93349
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 |
---|---|---|
Percent of people who have these symptoms is not available through HPO | ||
Anterior wedging of T11 | 0004573 | |
Anterior wedging of T12 | 0011940 | |
Short fingers or toes
|
0001156 | |
Broad long bone diaphyses |
Broad shaft of long bone
Wide shaft of long bone
[ more ]
|
0006371 |
Broad metacarpals |
Wide long bones of hand
|
0001230 |
Broad phalanx |
Wide digital bones
|
0006009 |
Cone-shaped distal radial epiphysis | 0004000 | |
Cone-shaped epiphyses fused within their metaphyses |
Cone-shaped end part of long bone fused within their wide portion of wide bone
|
0005066 |
Cone-shaped epiphyses of the phalanges of the hand |
Cone-shaped end part of finger bones
|
0010230 |
Cone-shaped metacarpal epiphyses |
Cone-shaped end part of long bone
|
0006059 |
Coxa valga | 0002673 | |
Delayed ossification of carpal bones | 0001216 | |
Disproportionate short-trunk |
Disproportionate short-trunked dwarfism
Disproportionate short-trunked short stature
Short-trunked dwarfism
[ more ]
|
0003521 |
Flared iliac wings | 0002869 | |
Flat acetabular roof | 0003180 | |
Hypoplasia of the maxilla |
Decreased size of maxilla
Decreased size of upper jaw
Maxillary deficiency
Maxillary retrusion
Small maxilla
Small upper jaw
Small upper jaw bones
Upper jaw deficiency
Upper jaw retrusion
[ more ]
|
0000327 |
Hypoplasia of the odontoid process | 0003311 | |
Kyphosis |
Hunched back
Round back
[ more ]
|
0002808 |
Limited elbow extension |
Decreased elbow extension
Elbow limited extension
Limitation of elbow extension
Limited extension at elbows
Limited forearm extension
Restricted elbow extension
[ more ]
|
0001377 |
Long fibula |
Long calf bone
|
0003085 |
Long ulna | 0003988 | |
Lumbar hyperlordosis |
Excessive inward curvature of lower spine
|
0002938 |
Metaphyseal irregularity |
Irregular wide portion of a long bone
|
0003025 |
Narrow pelvis bone | 0003275 | |
Pectus carinatum |
Pigeon chest
|
0000768 |
Platyspondyly |
Flattened vertebrae
|
0000926 |
Posterior rib cupping | 0000922 | |
Prominent styloid process of ulna | 0004981 | |
Radial deviation of the hand | 0009486 | |
Short clavicles |
Short collarbone
|
0000894 |
Short foot |
Short feet
Small feet
[ more ]
|
0001773 |
Short long bone |
Long bone shortening
|
0003026 |
Short metacarpal |
Shortened long bone of hand
|
0010049 |
Short palm | 0004279 | |
Short phalanx of finger |
Short finger bones
|
0009803 |
Spondyloepimetaphyseal dysplasia | 0002651 | |
0001419 |
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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