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Disease Profile

Bilateral frontoparietal polymicrogyria

Prevalence
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.

Unknown

Age of onset

-

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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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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 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]

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)

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
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

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

    Organizations Providing General Support

      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

          1. 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.
          2. POLYMICROGYRIA, BILATERAL FRONTOPARIETAL; BFPP. OMIM. April 2014; https://omim.org/entry/606854.

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