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 macular morphology | 0001103 | |
| Abnormality of vision |
Abnormality of sight
Vision issue
[ more ]
|
0000504 |
| Constipation | 0002019 | |
| Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
| Intestinal obstruction |
Bowel obstruction
Intestinal blockage
[ more ]
|
0005214 |
| 30%-79% of people have these symptoms | ||
| Abdominal pain |
Pain in stomach
Stomach pain
[ more ]
|
0002027 |
| Olfactory lobe agenesis |
Olfactory lobe absence
|
0001341 |
| Prominent nasal bridge |
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge
[ more ]
|
0000426 |
| Synophrys |
Monobrow
Unibrow
[ more ]
|
0000664 |
| Underdeveloped nasal alae |
Underdeveloped tissue around nostril
|
0000430 |
| Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ]
|
0000431 |
| 5%-29% of people have these symptoms | ||
| Abnormality of retinal pigmentation | 0007703 | |
| Anosmia |
Lost smell
|
0000458 |
| Lacrimal gland hypoplasia |
Underdeveloped tear gland
|
0007732 |
| Telecanthus |
Corners of eye widely separated
|
0000506 |
| Percent of people who have these symptoms is not available through HPO | ||
| Aganglionic megacolon |
Enlarged colon lacking nerve cells
|
0002251 |
| 0001251 | ||
| 0000006 | ||
| 0000007 | ||
| Blue irides |
Blue eyes
|
0000635 |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Global |
0001263 | |
| Heterochromia iridis |
Different colored eyes
|
0001100 |
|
Decreased activity of gonads
|
0000135 | |
| Hypopigmented skin patches |
Patchy loss of skin color
|
0001053 |
| Leukodystrophy | 0002415 | |
| Muscular |
Low or weak muscle tone
|
0001252 |
|
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
| Polyneuropathy |
Peripheral nerve disease
|
0001271 |
| Premature graying of hair |
Early graying
Premature graying
Premature greying
Premature hair graying
[ more ]
|
0002216 |
| Sensorineural hearing impairment | 0000407 | |
| Spastic paraparesis | 0002313 | |
| White eyebrow |
Pale eyebrow
|
0002226 |
| White eyelashes |
Blonde eyelashes
Pale eyelashes
[ more ]
|
0002227 |
| White forelock |
White part of hair above forehead
|
0002211 |
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.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
|
Conditions with similar signs and symptoms from Orphanet
|
|---|
|
The differential diagnosis includes other forms of Waardenburg syndrome, piebaldism and ermine phenotype, as well as other causes of hearing loss or Hirschsprung disease.
Visit the
Orphanet disease page
for more information.
|
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.
