Orpha Number: 93352
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 | ||
Abnormal epiphyseal ossification | 0010656 | |
Abnormality of epiphysis morphology |
Abnormal shape of end part of bone
|
0005930 |
Abnormality of the ribs |
Rib abnormalities
|
0000772 |
Flat acetabular roof | 0003180 | |
Genu varum |
Outward bow-leggedness
Outward bowing at knees
[ more ]
|
0002970 |
Lumbar hyperlordosis |
Excessive inward curvature of lower spine
|
0002938 |
Metaphyseal widening |
Broad wide portion of long bone
|
0003016 |
Micromelia |
Smaller or shorter than typical limbs
|
0002983 |
Platyspondyly |
Flattened vertebrae
|
0000926 |
Severe |
Dwarfism
Proportionate dwarfism
Short stature, severe
[ more ]
|
0003510 |
Short femur |
Short thighbone
|
0003097 |
Short iliac bones |
Short pelvis bones
|
0100866 |
Short neck |
Decreased length of neck
|
0000470 |
Short thorax |
Shorter than typical length between neck and abdomen
|
0010306 |
Spondyloepimetaphyseal dysplasia | 0002651 | |
Thin vermilion border |
Decreased volume of lip
Thin lips
[ more ]
|
0000233 |
30%-79% of people have these symptoms | ||
Abdominal distention |
Abdominal bloating
Abdominal swelling
Belly bloating
Bloating
[ more ]
|
0003270 |
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 |
Gait disturbance |
Abnormal gait
Abnormal walk
Impaired gait
[ more ]
|
0001288 |
Hepatomegaly |
Enlarged liver
|
0002240 |
Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
Round face |
Circular face
Round facial appearance
Round facial shape
[ more ]
|
0000311 |
Splenomegaly |
Increased spleen size
|
0001744 |
5%-29% of people have these symptoms | ||
Wormian bones |
Extra bones within cranial sutures
|
0002645 |
1%-4% of people have these symptoms | ||
Hoarse voice |
Hoarseness
Husky voice
[ more ]
|
0001609 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of the abdominal wall | 0004298 | |
0000007 | ||
Bell-shaped thorax | 0001591 | |
Central vertebral hypoplasia | 0008463 | |
Coxa vara | 0002812 | |
Delayed epiphyseal ossification | 0002663 | |
Disproportionate short stature | 0003498 | |
Fibular overgrowth |
Overgrowth of calf bone
|
0003099 |
Flared metaphysis |
Flared wide portion of long bone
|
0003015 |
Joint laxity |
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ]
|
0001388 |
Limb undergrowth |
limb shortening
Short limb
Short limbs
[ more ]
|
0009826 |
Metaphyseal irregularity |
Irregular wide portion of a long bone
|
0003025 |
Narrow greater sciatic notch | 0003375 | |
Narrow vertebral interpedicular distance | 0008450 | |
Short femoral neck |
Short neck of thighbone
|
0100864 |
Short ribs | 0000773 | |
Vertebral hypoplasia |
Underdeveloped vertebrae
|
0008417 |
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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