Orpha Number: 89842
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 cutis congenita||
Absence of part of skin at birth
Sunken or indented skin due to damage
Poor nail formation
|30%-79% of people have these symptoms|
|Abnormality of the anus||0004378|
Tooth decay[ more ]
Swallowing difficulty[ more ]
Narrowing of esophagus due to inflammation and scar tissue
|Oral mucosal blisters||
Blisters of mouth
|5%-29% of people have these symptoms|
Low number of red blood cells or hemoglobin
Damage to outer layer of the cornea of the eye
Delayed pubertal development
Delayed pubertal growth
Pubertal delay[ more ]
|Failure to thrive||
Weight faltering[ more ]
Poor feeding[ more ]
Loss of vision
Vision loss[ more ]
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.
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.
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