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  3. Bilateral frontoparietal polymicrogyria
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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


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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


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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 35 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Cerebellar dysplasia 0007033
Cerebral dysmyelination 0007266
Cortical dysplasia 0002539
Motor delay 0001270
Ventriculomegaly 0002119
30%-79% of people have these symptoms
Abnormal pyramidal sign 0007256
Bilateral tonic-clonic seizure with generalized onset 0025190
Cerebellar vermis hypoplasia 0001320
Esotropia
Inward turning cross eyed
0000565
Gait imbalance
Abnormality of balance
Abnormality of equilibrium
Imbalanced walk
[ more ]
0002141
Global developmental delay 0001263
Hypoplasia of the pons 0012110
Intellectual disability, severe
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ]
0010864
Language impairment 0002463
5%-29% of people have these symptoms
Atonic seizure 0010819
Generalized myoclonic seizure 0002123
Hypoplasia of the brainstem
Small brainstem
Underdeveloped brainstem
[ more ]
0002365
Increased head circumference 0040194
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
0000252
Typical absence seizure 0011147
1%-4% of people have these symptoms
Dysmetria
Lack of coordination of movement
0001310
Frontal polymicrogyria 0006821
Hypertonia 0001276
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
0001249
Seizure 0001250
Truncal ataxia
Instability or lack of coordination of central trunk muscles
0002078
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
Exotropia
Outward facing eye ball
0000577
Frontoparietal polymicrogyria 0007095
Hyperreflexia
Increased reflexes
0001347
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Showing of 35 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist


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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 MedlinePlus Genetics.

Research Research


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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


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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/
  • 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/

Organizations Providing General Support

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

Learn More Learn More


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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.

News & Events News & Events


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News

  • Rare Disease Day at NIH 2021
    March 1, 2021

GARD Answers GARD Answers


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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


  1. 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.
  2. POLYMICROGYRIA, BILATERAL FRONTOPARIETAL; BFPP. OMIM. April 2014; http://omim.org/entry/606854.
Do you know of a review article? We want to hear from you.
You can help advance
rare disease research!
You can help advance rare disease research!
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