Orpha Number: 168454
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 |
---|---|---|
5%-29% of people have these symptoms | ||
Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
Joint laxity |
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ]
|
0001388 |
0001250 | ||
Small basal ganglia | 0012697 | |
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
Ventriculomegaly | 0002119 | |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of the pinna |
Abnormally shaped ears
Auricular malformation
Deformed ears
Malformed ears
[ more ]
|
0000377 |
Abnormality of the skin | 0000951 | |
0001251 | ||
0000007 | ||
Brachycephaly |
Short and broad skull
|
0000248 |
Carpal bone hypoplasia |
Small carpal bones
Small carpals
[ more ]
|
0001498 |
Cerebral atrophy |
Degeneration of cerebrum
|
0002059 |
Coarse facial features |
Coarse facial appearance
|
0000280 |
Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
Flared metaphysis |
Flared wide portion of long bone
|
0003015 |
Flat acetabular roof | 0003180 | |
Generalized |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
Hirsutism |
Excessive hairiness
|
0001007 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
Intellectual disability, severe |
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ]
|
0010864 |
Irregular epiphyses |
Irregular end part of long bone
|
0010582 |
Irregular vertebral endplates | 0003301 | |
Long fibula |
Long calf bone
|
0003085 |
Low anterior hairline |
Low frontal hairline
Low-set frontal hairline
[ more ]
|
0000294 |
Low posterior hairline |
Low hairline at back of neck
|
0002162 |
Metaphyseal irregularity |
Irregular wide portion of a long bone
|
0003025 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
Muscular hypotonia |
Low or weak muscle tone
|
0001252 |
Narrow iliac wings | 0002868 | |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Platyspondyly |
Flattened vertebrae
|
0000926 |
Posterior scalloping of vertebral bodies | 0005121 | |
Prominent forehead |
Pronounced forehead
Protruding forehead
[ more ]
|
0011220 |
Short femoral neck |
Short neck of thighbone
|
0100864 |
Short neck |
Decreased length of neck
|
0000470 |
Small epiphyses |
Small end part of bone
|
0010585 |
Spondyloepimetaphyseal dysplasia | 0002651 | |
Synophrys |
Monobrow
Unibrow
[ more ]
|
0000664 |
Thick lower lip vermilion |
Increased volume of lower lip
Plump lower lip
Prominent lower lip
[ more ]
|
0000179 |
Wide nose |
Broad nose
Increased breadth of nose
Increased nasal breadth
Increased nasal width
Increased width of nose
[ more ]
|
0000445 |
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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