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Bilateral frontal polymicrogyria
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Disease at a Glance
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. 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 in the GPR56 gene but the cause for the frontal form of polymicrogyira is still not known.
Estimated Number of People with this Disease
This section is currently in development.
What Information Does GARD Have For This Disease?
Many rare diseases have limited information. Currently GARD is able to provide the following information for this disease:
*Data may be currently unavailable to GARD at this time.
Categories
When do symptoms of this disease begin?
This section is currently in development.
Symptoms
These symptoms may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom.
This disease might cause these symptoms:
This disease might cause these symptoms:
Nervous System
10 Symptoms
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Nervous System
The nervous system is made up of the brain, spinal cord, and nerves. Common symptoms of problems in the nervous system include trouble moving, speaking, swallowing, breathing, or learning. Problems with memory, senses, or mood may also occur. Nervous system diseases are usually diagnosed and treated by neurologists.
10 Symptoms
Causes
This section is currently in development.
Next Steps
Talking with the Medical Team
Good communication between the patient, family, and medical team can lead to an accurate diagnosis. In addition, health care decisions can be made together which improves the patient’s well-being and quality of life.
The National Library of Medicine's Unified Medical Language System (UMLS) is used to classify and organize diseases and disease categories.
Data from Orphanet and Human Phenotype Ontology (HPO) are used to provide information on a disease's symptoms, genes, inheritance, population estimates, and more.
National Academies of Sciences, Engineering, and Medicine. 2015. Improving Diagnosis in Health Care. Washington, DC: The National Academies Press.
U.S. Department of Health and Human Services, Office of Disease Prevention and Health Promotion. (2015). Health Literacy Online: A Guide for Simplifying the User Experience.
- Reference: Access aggregated data from Orphanet at Orphadata. Orphanet is an online database of rare diseases and orphan drugs. Copyright, INSERM 1997.
- Reference: Download data from HPO. Kohler S, Gargano M, Matentzoglu N, et al., The Human Phenotype Ontology in 2021, Nucleic Acids Research, Volume 49, Issue D1, 8 January 2021, Pages D1207–D1217.
- Reference: MedGen Data Downloads and FTP
- Reference: Data from the Newborn Screening Coding and Terminology Guide is available here. Downs SM, van Dyck PC, Rinaldo P, et al. Improving newborn screening laboratory test ordering and result reporting using health information exchange . J Am Med Inform Assoc. 2010 Jan-Feb;17(1):13-8.
National Academies of Sciences, Engineering, and Medicine. 2015. Improving Diagnosis in Health Care. Washington, DC: The National Academies Press.
U.S. Department of Health and Human Services, Office of Disease Prevention and Health Promotion. (2015). Health Literacy Online: A Guide for Simplifying the User Experience.
Last Updated: Nov. 8, 2021