Orpha Number: 638
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 | ||
| Abdominal wall muscle weakness | 0009023 | |
| Abnormality of the helix | 0011039 | |
| Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Hypertrophic |
Enlarged and thickened heart muscle
|
0001639 |
| Low-set, posteriorly rotated ears | 0000368 | |
| Multiple cafe-au-lait spots | 0007565 | |
|
Drooping upper eyelid
|
0000508 | |
| Pulmonic stenosis |
Narrowing of pulmonic valve
|
0001642 |
|
Small stature
Decreased body height
[ more ]
|
0004322 | |
| Specific learning disability | 0001328 | |
| Webbed neck |
Neck webbing
|
0000465 |
| 30%-79% of people have these symptoms | ||
| Abnormal thorax morphology |
Abnormality of the chest
|
0000765 |
| Abnormality of the |
0100763 | |
| Cryptorchidism |
Undescended testis
Undescended testes
[ more ]
|
0000028 |
|
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ]
|
0002015 | |
| Prolonged bleeding time | 0003010 | |
| 1%-4% of people have these symptoms | ||
| Axillary freckling | 0000997 | |
| Cubitus valgus |
Outward turned elbows
|
0002967 |
| Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Lisch nodules | 0009737 | |
| Low posterior hairline |
Low hairline at back of neck
|
0002162 |
| Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
| Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ]
|
0000256 |
| Malar flattening |
Zygomatic flattening
|
0000272 |
| Neuroblastoma |
Cancer of early nerve cells
|
0003006 |
| Optic nerve glioma | 0009734 | |
| Pectus excavatum |
Funnel chest
|
0000767 |
| Plexiform neurofibroma | 0009732 | |
| Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
| 0002650 | ||
| Thick vermilion border |
Full lips
Increased volume of lip
Plump lips
Prominent lips
Thick lips
[ more ]
|
0012471 |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000006 | ||
| Delayed speech and language development |
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ]
|
0000750 |
| 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 |
| Global |
0001263 | |
| Inguinal freckling |
Freckles in groin region
|
0030052 |
| Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ]
|
0011800 |
| Muscle weakness |
Muscular weakness
|
0001324 |
| Pectus excavatum of inferior sternum | 0000915 | |
| Prominent nasolabial fold |
Deep laugh lines
Deep smile lines
Prominent laugh lines
Prominent smile lines
[ more ]
|
0005272 |
| Secundum atrial septal defect | 0001684 | |
| Short neck |
Decreased length of neck
|
0000470 |
| Superior pectus carinatum | 0000917 | |
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.
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.
Rare Diseases Are Not Rare - Gallery of Creative Work Raises Awareness of Rare Diseases
September 1, 2020
NIH-Supported Research Survey to Examine Impact of COVID-19 on Rare Diseases Community
May 22, 2020
NCATS Translational Approach Addresses COVID-19
May 21, 2020
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.
