The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
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.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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. Submit a new question
I have been pregnant three times. My first pregnancy ended in miscarriage at 10 weeks. My second pregnancy resulted in my daughter. She has some developmental delays specifically in speech and language. My third pregnancy ended at 15 weeks with an anencephalic baby. That pregnancy was terminated. My question is, could the miscarriage, my daughter's delays, and the anencephalic baby all be related to each other? Or are each of these instances random and just "bad luck?" Should I seek genetic testing before trying for another baby? See answer
If anencephaly occurred in a previous pregnancy, what are the chances of this condition affecting the next pregnancy if we take the recommended medication? How long should the medication be taken before attempting another pregnancy? See answer
My mother had a baby with anencephaly. Does this increase the chances for me to have a baby with this condition? See answer