Rare Pediatrics News
Disease Profile
Bilateral frontoparietal polymicrogyria
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
0
Age of onset
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ICD-10
Q04.3
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
BFPP; Cerebellar ataxia with neuronal migration defect
Categories
Congenital and Genetic Diseases; Nervous System Diseases
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
Symptoms
- 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)
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.
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 | |
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 |
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 |
Involuntary, rapid, rhythmic eye movements
|
0000639 |
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
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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: https://brainfoundation.org.au/contact
Website: https://www.brainfoundation.org.au/ -
PMG Awareness Organization
4533 MacArthur Boulevard
Suite 5182
Newport Beach, CA 92660
Telephone: (949) 329-5975
E-mail: [email protected]
Website: https://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: [email protected]
Website: https://www.epilepsy.com/
en Español 1-866-748-8008
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.
References
- Chang B, Walsh CA, Apse K & Bodell A. Polymicrogyria Overview. Gene Reviews. August 6, 2007; https://www.ncbi.nlm.nih.gov/books/NBK1329/. Accessed 3/9/2015.
- POLYMICROGYRIA, BILATERAL FRONTOPARIETAL; BFPP. OMIM. April 2014; https://omim.org/entry/606854.
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