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 | ||
Calvarial skull defect |
Cranial defect
Skull defect
[ more ]
|
0001362 |
Macular degeneration | 0000608 | |
Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ]
|
0000545 |
Occipital encephalocele |
Brain tissue sticks out through back of skull
|
0002085 |
Retinal detachment |
Detached retina
|
0000541 |
30%-79% of people have these symptoms | ||
Too much cerebrospinal fluid in the brain
|
0000238 | |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Progressive visual loss |
Progressive loss of vision
Progressive vision loss
Progressive visual impairment
Slowly progressive visual loss
Vision loss, progressive
Visual loss, progressive
[ more ]
|
0000529 |
Vitreoretinopathy | 0007773 | |
5%-29% of people have these symptoms | ||
Abnormal hair morphology |
Abnormality of the hair
Hair abnormality
[ more ]
|
0001595 |
Bifid ureter | 0030037 | |
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
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 |
Dextrocardia |
Heart tip and four chambers point towards right side of body
|
0001651 |
Ectopia lentis | 0001083 | |
Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
Lymphangioma | 0100764 | |
Mental deterioration |
Cognitive decline
Cognitive decline, progressive
Intellectual deterioration
Progressive cognitive decline
[ more ]
|
0001268 |
Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ]
|
0011800 |
Patent ductus arteriosus | 0001643 | |
Pyloric stenosis | 0002021 | |
0001250 | ||
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
Vesicoureteral reflux | 0000076 | |
Percent of people who have these symptoms is not available through HPO | ||
Alopecia |
Hair loss
|
0001596 |
0001251 | ||
0000007 | ||
Band keratopathy | 0000585 | |
Cerebellar atrophy |
Degeneration of cerebellum
|
0001272 |
Cerebral atrophy |
Degeneration of cerebrum
|
0002059 |
Developmental cataract |
Clouding of the lens of the eye at birth
|
0000519 |
High myopia |
Severe near sightedness
Severely close sighted
Severely near sighted
[ more ]
|
0011003 |
Macular hypoplasia | 0001104 | |
Peripapillary atrophy | 0500087 | |
Phthisis bulbi | 0000667 | |
Polymicrogyria |
More grooves in brain
|
0002126 |
Ventriculomegaly | 0002119 | |
Visual loss |
Loss of vision
Vision loss
[ more ]
|
0000572 |
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
|
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The differential diagnosis should include the following syndromes: Stickler, Wagner, Marshall, Meckel and HARD±E syndrome (see these terms).
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. Submit a new question
How did Knobloch syndrome get its name? Is severe myopia one of the main symptoms? See answer