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)|
|Telangiectasia of the skin||90%|
|Aplasia/Hypoplasia of the cerebellum||50%|
|Abnormality of neuronal migration||7.5%|
|Deeply set eye||7.5%|
|Depressed nasal bridge||7.5%|
|Cavum septum pellucidum||-|
|Ventricular septal defect||-|
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.
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.
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) email@example.com
Co-funding Institute(s): National Institute of Child Health and Human Development, Office of Rare Diseases Research