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central nervous system. People with porencephaly develop fluid-filled cysts or cavities in the brain either before or shortly after birth. The severity of the condition and the associated signs and symptoms vary significantly based on the size, location, and number of cysts. Common features include developmental delay, reduced muscle tone (hypotonia), seizures, macrocephaly (unusually large head size), spastic hemiplegia, speech problems, delayed growth, and intellectual disability. Porencephaly is usually the result of damage from infection or stroke after birth. In these cases, the condition occurs sporadically in people with no family history of the condition. There is an inherited form of the condition called familial porencephaly, which is caused by changes (mutations) in the COL4A1 or COL4A2 genes and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person and may include physical therapy and medication for seizures.Porencephaly is a rare condition that affects the
Last updated: 3/15/2016
- NINDS Porencephaly Information Page. National Institute of Neurological Disorders and Stroke. June 2015; http://www.ninds.nih.gov/disorders/porencephaly/porencephaly.htm.
- Sporadic Porencephaly. NORD. 2013; http://rarediseases.org/rare-diseases/sporadic-porencephaly/.
- PORENCEPHALY 1. OMIM. February 2016; http://www.omim.org/entry/175780?search=porencephaly&highlight=porencephaly.
- PORENCEPHALY 2. OMIM. February 2012; http://www.omim.org/entry/614483?search=porencephaly&highlight=porencephaly.
- Genetics Home Reference (GHR) contains information on Porencephaly. This website is maintained by the National Library of Medicine.
- The National Institute of Neurological Disorders and Stroke (NINDS) (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Porencephaly. Click on the link to view a sample search on this topic.