Bilateral frontoparietal polymicrogyria

Title

Other Names:

BFPP; Cerebellar ataxia with neuronal migration defect

Categories:

Congenital and Genetic Diseases; Nervous System Diseases

This disease is grouped under:

Polymicrogyria

Summary Summary

Bilateral frontoparietal polymicrogyria (BFPP) is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). BFPP specifically affects the frontal and parietal lobes on both sides of the brain (bilateral). Signs and symptoms typically include moderate to severe intellectual disability, developmental delay, seizures, cerebellar ataxia, strabismus, and dysconjugate gaze (eyes that are not aligned). Some cases are caused by mutations in the GPR56 gene and are inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.^[1]^[2]

Last updated: 6/8/2015

Symptoms Symptoms

The signs and symptoms of bilateral frontoparietal polymicrogyria vary but may include:^[2]^[1]

Moderate to severe intellectual disability
Developmental delay
Seizures
Dysconjugate gaze (eyes that are not aligned)
Ataxia
Strabismus
Increased muscle tone
Finger dysmetria (difficulty controlling speed, distance and/or power of movements)

Last updated: 6/7/2015

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.

Showing of 21 |

Medical Terms	Other Names	Learn More: HPO ID
1%-4% of people have these symptoms
Dysmetria	Lack of coordination of movement	0001310
Esotropia	Inward turning cross eyed	0000565
Frontal polymicrogyria		0006821
Global developmental delay		0001263
Hypertonia		0001276
Hypoplasia of the pons		0012110
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Seizures	Seizure	0001250
Truncal ataxia	Instability or lack of coordination of central trunk muscles	0002078
Ventriculomegaly		0002119
Percent of people who have these symptoms is not available through HPO
Ankle clonus	Abnormal rhythmic movements of ankle	0011448
Autosomal recessive inheritance		0000007
Babinski sign		0003487
Broad-based gait	Wide based walk	0002136
Cerebellar hypoplasia	Small cerebellum Underdeveloped cerebellum [ more ]	0001321
Cerebral dysmyelination		0007266
Exotropia	Outward facing eye ball	0000577
Frontoparietal polymicrogyria		0007095
Hyperreflexia	Increased reflexes	0001347
Hypoplasia of the brainstem	Small brainstem Underdeveloped brainstem [ more ]	0002365
Nystagmus	Involuntary, rapid, rhythmic eye movements	0000639

Showing of 21 |

Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 1/1/2020

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Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Research Research

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.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to Bilateral frontoparietal polymicrogyria. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

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

Brain Foundation
P O Box 579
Crows Nest, NSW
1585 Suite 21
Regent House 37-43
Alexander Street Crows Nest, NSW 2065
Australia
Telephone: 61 2 9437 5967
Fax: 61 2 9437 5978
E-mail: http://brainfoundation.org.au/contact
Website: http://www.brainfoundation.org.au/
Developmental Delay Resources (DDR)
5801 Beacon Street
Pittsburgh, PA 15217
Toll-free: 800-497-0944
Fax: 412-422-1374
E-mail: devdelay@mindspring.com
Website: http://www.devdelay.org
Epilepsy Foundation
8301 Professional Place East
Suite 230
Landover, MD 20785
Toll-free: 800-332-1000 (24/7 Helpline)
Telephone: +1-301-459-3700
Fax: +1-301-577-2684
E-mail: contactus@efa.org
Website: https://www.epilepsy.com/
en Español 1-866-748-8008
PMG Awareness Organization
15642 Sand Canyon Avenue
Unit 51235
Irvine, CA 92619
Telephone: (949) 329-5975
E-mail: information@pmgawareness.org
Website: http://pmgawareness.org/

Do you know of an organization? We want to hear from you.

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 frontoparietal 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.
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 Bilateral frontoparietal polymicrogyria. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

What is bilateral frontoparietal polymicrogyria? What are its symptoms? How is it different from bilateral perisylvian polymicrogyria in how it presents and what symptoms we see? See answer

Have a question? Contact a GARD Information Specialist.

References References

Chang B, Walsh CA, Apse K & Bodell A. Polymicrogyria Overview. Gene Reviews. August 6, 2007; http://www.ncbi.nlm.nih.gov/books/NBK1329/. Accessed 3/9/2015.
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL; BFPP. OMIM. April 2014; http://omim.org/entry/606854.

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