Orpha Number: 3236
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||
|80%-99% of people have these symptoms|
|Abnormality of dental enamel||
Abnormal tooth enamel
Enamel abnormality[ more ]
|Abnormality of the hip bone||
Abnormality of the hips
|Aplasia/Hypoplasia of the middle ear||
Absent/small middle ear
Absent/underdeveloped middle ear[ more ]
|Atresia of the external auditory canal||
Absent ear canal
Narrow opening between the eyelids
|Clinodactyly of the 5th finger||
Permanent curving of the pinkie finger
|Conductive hearing impairment||
Conductive hearing loss[ more ]
Dislocations of the elbows
Elbow dislocations[ more ]
Prominent eye folds[ more ]
Fine hair shaft
Fine hair texture
Thin hair shaft
Thin hair texture[ more ]
|Narrow nasal bridge||
Narrow bridge of nose
Nasal Bridge, Narrow
Nasal bridge, thin[ more ]
Drooping upper eyelid
|30%-79% of people have these symptoms|
|Abnormal palate morphology||
Abnormality of the palate
Abnormality of the roof of the mouth[ more ]
|Bilateral single transverse palmar creases||0007598|
Nearsightedness[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Abnormality of the dentition||
Dental abnormality[ more ]
|Chronic otitis media||
Chronic infections of the middle ear
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.
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.
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