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 cerebral artery morphology||
Abnormality of cerebral artery
Abnormality of the cerebral arteries[ more ]
|30%-79% of people have these symptoms|
|Abnormality of the cardiac septa||0001671|
|Cerebral arteriovenous malformation||0002408|
Abnormally small eyeball
|Optic nerve hypoplasia||0000609|
|5%-29% of people have these symptoms|
|Abnormal carotid artery morphology||0005344|
|Abnormality of the sternum||
Wandering eye[ more ]
|Aortic root dilatation||0002616|
Underdeveloped cerebellum[ more ]
|Coarctation of aorta||0001680|
Abnormal thryoid location
Different colored eyes
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference[ more ]
Drooping upper eyelid
|Retinal vascular malformation||0007797|
Squint eyes[ more ]
|Tetralogy of Fallot||0001636|
|Percent of people who have these symptoms is not available through HPO|
|Anomalous branches of internal carotid artery||0005314|
Narrowing of an artery
|Cavernous hemangioma of the face||0007486|
|Increased retinal vascularity||0007986|
Intermittent migraine headaches
Migraine headaches[ more ]
|Patent ductus arteriosus||0001643|
|Plaque-like facial hemangioma||0007434|
|Ventricular septal defect||0001629|
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.
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.
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.
Got a Great Research Idea? ‘All of Us’ Wants to Hear It!
January 18, 2018
New NCATS Rare Diseases Research Video
December 27, 2017
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
David W. Smith Workshop on Malformations and Morphogenesis
Friday, September 9, 2011 -
Wednesday, September 14, 2011
Location: UCLA Lake Arrowhead Conference Center, Lake Arrowhead , CA
Description: Themes for 2011; Mechanisms of normal and abnormal morphogenesis including insights from prenatal imaging; Somatic overgrowth; Brain overgrowth; Cortical dysplasia; Signaling pathways in morphogenesis; Angiogenesis and vascular malformations in genetic syndromes
Contact: Mary Lou Oster-Granite, Ph.D.(301) firstname.lastname@example.org
Co-funding Institute(s): National Institute of Child Health and Human Development, Office of Rare Diseases Research
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