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|
Cleft roof of mouth
Flat facial shape
|30%-79% of people have these symptoms|
Birth defect that causes a hole in the innermost layer at the back of the eye
Fused forearm bones
|Sensorineural hearing impairment||0000407|
Decreased body height
Small stature[ more ]
|Ulnar deviation of finger||
Finger bends toward pinky
|5%-29% of people have these symptoms|
|Abnormal localization of kidney||
Abnormal localisation of kidneys
|Atrial septal defect||
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers[ more ]
Short fingers or toes
|Conductive hearing impairment||
Conductive hearing loss[ more ]
Undescended testis[ more ]
Chin skin dimple
Indentation of chin[ more ]
Prominent eye folds[ more ]
Cornea of eye less than 10mm in diameter
Stubby toes[ more ]
Webbed toes[ more ]
|Percent of people who have these symptoms is not available through HPO|
Hearing defect[ more ]
Prominent ears[ 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.
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
Differential diagnosis include CHARGE syndrome.
Visit the Orphanet disease page for more information.
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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What parts of the body does Abruzzo-Erickson syndrome effect? See answer