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.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormal facial shape||90%|
|Non-midline cleft lip||90%|
|Single median maxillary incisor||90%|
|Abnormality of the sense of smell||50%|
|Aplasia/Hypoplasia affecting the eye||50%|
|Aplasia/Hypoplasia of the corpus callosum||50%|
|Depressed nasal ridge||50%|
|Reduced number of teeth||50%|
|Abnormal form of the vertebral bodies||7.5%|
|Abnormality of chromosome segregation||7.5%|
|Abnormality of neuronal migration||7.5%|
|Abnormality of the antihelix||7.5%|
|Abnormality of the aorta||7.5%|
|Abnormality of the philtrum||7.5%|
|Abnormality of the pulmonary valve||7.5%|
|Abnormality of the spleen||7.5%|
|Abnormality of the tragus||7.5%|
|Aplasia/Hypoplasia involving the nose||7.5%|
|Aplasia/Hypoplasia of the cerebellum||7.5%|
|Aplasia/Hypoplasia of the lungs||7.5%|
|Congenital diaphragmatic hernia||7.5%|
|Deeply set eye||7.5%|
|External ear malformation||7.5%|
|Highly arched eyebrow||7.5%|
|Hypoplasia of penis||7.5%|
|Hypoplasia of the zygomatic bone||7.5%|
|Tetralogy of Fallot||7.5%|
|Upslanted palpebral fissure||7.5%|
|Ventricular septal defect||7.5%|
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
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. Suggest an organization to add.
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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My mother's brother had holoprosencephaly, as do 3 of his children, 8 of his grandchildren, and now 1 great grandchild. My mother shows no sign of it and it hasn't appeared in her children or grandchildren. But could she still be a carrier of the disorder? If my uncle got it from his mother then does it mean my mother must have it too? Or could it have missed her? See answer
What is the life expectancy for a baby with semi-lobar holoprosencephaly? What are the most common defects? See answer