Orpha Number: 56305
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 |
---|---|---|
30%-79% of people have these symptoms | ||
Coronal cleft vertebrae | 0003417 | |
Distal tapering femur |
Tapering of outermost end of thighbone
|
0006408 |
Elbow dislocation |
Dislocations of the elbows
Elbow dislocations
[ more ]
|
0003042 |
Hip dislocation |
Dislocated hips
Dislocation of hip
[ more ]
|
0002827 |
Knee dislocation | 0004976 | |
Patellar dislocation |
Dislocated kneecap
|
0002999 |
Respiratory insufficiency |
Respiratory impairment
|
0002093 |
Short tubular bones of the hand | 0001248 | |
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
|
0001762 |
Vertebral hypoplasia |
Underdeveloped vertebrae
|
0008417 |
5%-29% of people have these symptoms | ||
Abnormal cervical curvature |
Abnormal neck curve
|
0005905 |
Absent humerus |
Absent long bone in upper arm
|
0003862 |
Absent radius |
Missing outer large bone of forearm
|
0003974 |
Club-shaped distal femur |
Club-shaped outermost end of thighbone
|
0006384 |
Epiphyseal stippling of the humerus | 0003902 | |
Fibular aplasia |
Absent calf bone
|
0002990 |
Global |
0001263 | |
Hand clenching |
Clenched hands
|
0001188 |
High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
Laryngotracheomalacia | 0008755 | |
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
Polyhydramnios |
High levels of amniotic fluid
|
0001561 |
Short tibia |
Short shinbone
Short skankbone
[ more ]
|
0005736 |
Thoracic hypoplasia |
Small chest
Small thorax
[ more ]
|
0005257 |
Thoracolumbar kyphosis | 0005619 | |
Ulnar deviation of the wrist | 0003049 | |
Percent of people who have these symptoms is not available through HPO | ||
0000006 | ||
Cervical kyphosis |
Rounded neck
|
0002947 |
Cervical segmentation defect | 0004632 | |
Cleft roof of mouth
|
0000175 | |
Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ]
|
0005280 |
Flat acetabular roof | 0003180 | |
Frontal bossing | 0002007 | |
Hitchhiker thumb | 0001234 | |
Horizontal sacrum | 0003440 | |
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 |
Malar flattening |
Zygomatic flattening
|
0000272 |
Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ]
|
0011800 |
Prominent occiput |
Prominent back of the skull
Prominent posterior skull
[ more ]
|
0000269 |
Radial bowing |
Bowing of outer large bone of the forearm
|
0002986 |
Rhizomelia |
Disproportionately short upper portion of limb
|
0008905 |
Sandal gap |
Gap between 1st and 2nd toes
Gap between first and second toe
Increased space between first and second toes
Sandal gap between first and second toes
Wide space between 1st, 2nd toes
Wide space between first and second toes
Wide-spaced big toe
Widely spaced 1st-2nd toes
Widely spaced first and second toes
Widened gap 1st-2nd toes
Widened gap first and second toe
[ more ]
|
0001852 |
0002650 | ||
Short neck |
Decreased length of neck
|
0000470 |
Tibial bowing |
Bowed shankbone
Bowed shinbone
[ more ]
|
0002982 |
Tombstone-shaped proximal phalanges |
Tombstone-shaped innermost digital bones
|
0006060 |
Widened distal phalanges |
Widened outermost bone of limb
|
0006200 |
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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