Bilateral frontal polymicrogyria

Title

Categories:

Congenital and Genetic Diseases; Nervous System Diseases

This disease is grouped under:

Polymicrogyria

Summary Summary

Bilateral frontal polymicrogyria is one of the rarest subtypes of polymicrogyria. It is a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the Sylvius fissure or the area located behind the Rolando sulcus. Some researchers classify the condition into two different forms: bilateral frontal polymicrogyria and the bilateral frontoparietal. Signs and symptoms included delayed motor and language milestones; spastic (stiffness) hemiparesis (weakness in one side of the body) or quadriparesis (weakness in all four limbs of the body); and mild to moderate intellectual disability. Seizures may also be present. The frontoparietal form is caused by changes (mutations) in the GPR56 gene but the cause for the frontal form of polymicrogyira is still not known. Treatment is based on the signs and symptoms present in each person.^[1]^[2]^[3]

Last updated: 10/11/2015

Symptoms Symptoms

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.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Delayed speech and language development	Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired speech and language development Impaired speech development Language delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language difficulties Speech delay [ more ]	0000750
Global developmental delay		0001263
30%-79% of people have these symptoms
Intellectual disability, mild	Mental retardation, borderline-mild Mild and nonprogressive mental retardation Mild mental retardation [ more ]	0001256
Spastic tetraparesis		0001285
5%-29% of people have these symptoms
EEG abnormality		0002353
Functional motor deficit		0004302
Hemiparesis	Weakness of one side of body	0001269
Hyperactive deep tendon reflexes		0006801
Seizure		0001250

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Last updated: 2/1/2021

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Organizations Organizations

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.

Organizations Supporting this Disease

PMG Awareness Organization
4533 MacArthur Boulevard
Suite 5182
Newport Beach, CA 92660
Telephone: (949) 329-5975
E-mail: information@pmgawareness.org
Website: http://pmgawareness.org/

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Learn More Learn More

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.

Where to Start

Genetics Home Reference (GHR) contains information on Bilateral frontal polymicrogyria. This website is maintained by the National Library of Medicine.

In-Depth Information

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
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.
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 Bilateral frontal polymicrogyria. Click on the link to view a sample search on this topic.

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References References

Chang B, Walsh CA, Alpse K & Bodel A. Polymicrogyria Overview. Gene Review. August, 2007; http://www.ncbi.nlm.nih.gov/books/NBK1329/. Accessed 10/2/2015.
Leventer R.J & cols. Clinical and imaging heterogeneity of polynicrogyria: a study of 328 patients. Brain. May, 2010; 133(5):1415-1427. http://brain.oxfordjournals.org/content/brain/early/2010/04/19/brain.awq078.full.pdf. Accessed 10/2/2015.
Jansen A. & Andermann E. Genetics of the polymicrogyria syndromes. J Med Genet. 2005; 42:369–378. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1736054/pdf/v042p00369.pdf. Accessed 10/2/2015.

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