Orpha Number: 1116
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|
|Abnormal hair quantity||0011362|
|Bilateral single transverse palmar creases||0007598|
|Calvarial skull defect||
Skull defect[ more ]
Swelling caused by excess lymph fluid under skin
|30%-79% of people have these symptoms|
|Clinodactyly of the 5th finger||
Permanent curving of the pinkie finger
Decreased blood lymphocyte number
Low lymphocyte number[ more ]
|5%-29% of people have these symptoms|
|Abnormality of coagulation||
Abnormal blood clotting
Birth defect that causes a hole in the innermost layer at the back of the eye
Nearsightedness[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Abnormality of the paranasal sinuses||
Abnormality of the sinuses of the head
|Aplasia cutis congenita over the scalp vertex||0004471|
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.
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.