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 | ||
| Broad nasal tip |
Broad tip of nose
Broad, upturned nose
Increased breadth of nasal tip
Increased breadth of tip of nose
Increased width of nasal tip
Increased width of tip of nose
Nasal tip, broad
Nasal tip, wide
Wide tip of nose
[ more ]
|
0000455 |
| Broad philtrum | 0000289 | |
| Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ]
|
0000268 |
|
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ]
|
0002015 | |
| Dysphonia |
Inability to produce voice sounds
|
0001618 |
| Fatiguable weakness of proximal limb muscles | 0030200 | |
| Generalized |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
| Global |
0001263 | |
| High, narrow palate |
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth
[ more ]
|
0002705 |
| Highly arched eyebrow |
Arched eyebrows
Broad, arched eyebrows
High, rounded eyebrows
High-arched eyebrows
Thick, flared eyebrows
[ more ]
|
0002553 |
| Hyperactivity |
More active than typical
|
0000752 |
| Hypomimic face |
Dull facial expression
|
0000338 |
| Incisor macrodontia |
Increased width of incisor
|
0011081 |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Narrow forehead |
Decreased width of the forehead
|
0000341 |
| Narrow nasal bridge |
Narrow bridge of nose
Nasal Bridge, Narrow
Nasal bridge, thin
[ more ]
|
0000446 |
| Nasogastric tube feeding | 0040288 | |
| Neonatal hypotonia |
Low muscle tone, in neonatal onset
|
0001319 |
| Open mouth |
Gaped jawed appearance
Gaped mouthed appearance
Slack jawed appearance
[ more ]
|
0000194 |
| Protruding ear |
Prominent ear
Prominent ears
[ more ]
|
0000411 |
| Sacral dimple |
Spinal dimple
|
0000960 |
| Short philtrum | 0000322 | |
| Tented upper lip vermilion | 0010804 | |
| Thick vermilion border |
Full lips
Increased volume of lip
Plump lips
Prominent lips
Thick lips
[ more ]
|
0012471 |
| 5%-29% of people have these symptoms | ||
| Areflexia |
Absent tendon reflexes
|
0001284 |
| 0005879 | ||
| Contractures involving the joints of the feet |
Contractures of the foot joints
|
0008366 |
| Limited elbow flexion/extension | 0005060 | |
| Motor axonal neuropathy | 0007002 | |
| Spinal muscular atrophy |
Spinal muscle degeneration
Spinal muscle wasting
[ more ]
|
0007269 |
| Tongue fasciculations |
Tongue twitching
Twitching of the tongue
[ more ]
|
0001308 |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormal facial shape |
Unusual facial appearance
|
0001999 |
| 0000006 | ||
| Broad eyebrow |
Broad eyebrows
Flared eyebrow
Increased vertical height of eyebrow
Increased vertical thickness of eyebrow
[ more ]
|
0011229 |
| Feeding difficulties in infancy | 0008872 | |
| High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Muscular hypotonia |
Low or weak muscle tone
|
0001252 |
| Submucous cleft soft palate | 0011819 | |
| Thick eyebrow |
Bushy eyebrows
Dense eyebrow
Heavy eyebrows
Prominent eyebrows
Thick eyebrows
[ more ]
|
0000574 |
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.
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.
