Orpha Number: 97249
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 | ||
0000007 | ||
Brachycephaly |
Short and broad skull
|
0000248 |
Cerebellar atrophy |
Degeneration of cerebellum
|
0001272 |
Cerebellar hypoplasia |
Small cerebellum
Underdeveloped cerebellum
[ more ]
|
0001321 |
Cerebral atrophy |
Degeneration of cerebrum
|
0002059 |
Symptoms present at birth
|
0003577 | |
Decreased body weight |
Decreased weight
Low body weight
Low weight
Weight less than 3rd percentile
[ more ]
|
0004325 |
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 |
Downturned corners of mouth |
Downturned corners of the mouth
Downturned mouth
[ more ]
|
0002714 |
Full cheeks |
Apple cheeks
Big cheeks
Increased size of cheeks
Large cheeks
[ more ]
|
0000293 |
Global |
0001263 | |
Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
High, narrow palate |
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth
[ more ]
|
0002705 |
Hyperreflexia |
Increased reflexes
|
0001347 |
Hypoplasia of the brainstem |
Small brainstem
Underdeveloped brainstem
[ more ]
|
0002365 |
Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
Hypoplasia of the pons | 0012110 | |
Long palpebral fissure |
Broad opening between the eyelids
Long opening between the eyelids
Wide opening between the eyelids
[ more ]
|
0000637 |
Long philtrum | 0000343 | |
Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
Macrotia |
Large ears
|
0000400 |
Muscular |
Low muscle tone in trunk
|
0008936 |
Neonatal hypotonia |
Low muscle tone, in neonatal onset
|
0001319 |
Optic atrophy | 0000648 | |
Poor head control | 0002421 | |
Progressive |
Worsens with time
|
0003676 |
Progressive |
Progressively abnormally small cranium
Progressively abnormally small skull
[ more ]
|
0000253 |
Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ]
|
0000520 |
0001250 | ||
Decreased body height
Small stature
[ more ]
|
0004322 | |
Involuntary muscle stiffness, contraction, or spasm
|
0001257 |
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.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.