Orpha Number: 2549
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|
|Aplasia/Hypoplasia of the thumb||
Absent/underdeveloped thumb[ more ]
Asymmetry of face
Unsymmetrical face[ more ]
Underdeveloped ears[ more ]
|Short mandibular rami||0003778|
|30%-79% of people have these symptoms|
|Abnormality of the middle ear ossicles||0004452|
|Atresia of the external auditory canal||
Absent ear canal
|Atrioventricular canal defect||0006695|
Abnormality of cognition
Mental impairment[ more ]
|EMG: myopathic abnormalities||0003458|
Pit in front of the ear
|Preauricular skin tag||0000384|
Absent/underdeveloped kidney[ more ]
|Sensorineural hearing impairment||0000407|
Decreased body height
Small stature[ more ]
|5%-29% of people have these symptoms|
|Aplasia/Hypoplasia affecting the eye||
Absent/underdeveloped eye[ more ]
|Aplasia/Hypoplasia of the lungs||
Absent/underdeveloped lungs[ more ]
Cleft roof of mouth
|Conductive hearing impairment||
Conductive hearing loss[ more ]
Abnormal anus position
Large mouth[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Complete duplication of thumb phalanx||
Complete duplication of thumb bones
Decreased size of half of the face
Decreased size of one side of the face[ more ]
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.
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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