Rare Endocrinology News
Disease Profile
Pachygyria
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.
#N/A
Age of onset
#N/A
ICD-10
#N/A
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)
Macrogyria; Broad gyri of cerebrum; Large gyri of cerebrum
Categories
Congenital and Genetic Diseases
Summary
Pachygyria is a developmental condition due to abnormal migration of nerve
Symptoms
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 | ||
Bilateral tonic-clonic seizure |
Grand mal seizures
|
0002069 |
Delayed speech and language development |
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ] |
0000750 |
Global |
0001263 | |
Intellectual disability, severe |
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ] |
0010864 |
Muscular |
Low or weak muscle tone
|
0001252 |
Reduced tendon reflexes | 0001315 | |
Seizure | 0001250 | |
Urinary incontinence |
Loss of bladder control
|
0000020 |
30%-79% of people have these symptoms | ||
Esotropia |
Inward turning cross eyed
|
0000565 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Premature birth |
Premature delivery of affected infants
Preterm delivery
[ more ] |
0001622 |
Telecanthus |
Corners of eye widely separated
|
0000506 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of the skeletal system |
Skeletal abnormalities
Skeletal anomalies
[ more ] |
0000924 |
Arachnoid cyst |
Fluid-filled sac located in membrane surrounding brain or spinal cord
|
0100702 |
Atypical absence seizure | 0007270 | |
0000007 | ||
Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 |
Intellectual disability, moderate |
IQ between 34 and 49
|
0002342 |
Pachygyria |
Fewer and broader ridges in brain
|
0001302 |
Profound static |
0007069 |
Cause
More than 25
People interested in learning about the cause of pachygyria in themselves or family members should speak with their health care provider or a a genetics professional.
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.
Social Networking Websites
- Visit the Support Group for Pachygyria group on Facebook.
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
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
In-Depth Information
- 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.
Frontotemporal pachygyria
Pachygyria with intellectual disability, seizures, and arachnoid cysts - Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
Autosomal recessive frontotemporal pachygyria
Pachygyria-intellectual disability-epilepsy syndrome - PubMed is a searchable database of medical literature and lists journal articles that discuss Pachygyria. Click on the link to view a sample search on this topic.
References
- NINDS Neuronal Migration Disorders Information Page. National Institute of Neurological Disorders and Stroke (NINDS) Web site. https://www.ninds.nih.gov/Disorders/All-Disorders/Neuronal-Migration-Disorders-Information-Page. Accessed 9/30/2017.
- Grainger & Allison's Diagnostic Radiology: A Textbook of Medical Imaging, 4th ed.. 2001;
- Roy U, Pandit A, Das U, Panwar A. “Reverse Tigroid” Pattern in Pachygyria: A Novel Finding. J Clin Imaging Sci. 2016; 56:15. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4863413/.
- Straussberg R, Gross S, Amir J, Gadoth N. A new autosomal recessive syndrome of pachygyria. Clin Genet. 1996; https://www.ncbi.nlm.nih.gov/pubmed/9147882.
- LISSENCEPHALY. NORD. September 6, 2012; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/454/viewAbstract. Accessed 2/20/2014.
- Poirier K et. al. Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. Nat Genet. June, 2013; 45(6):639-647. Accessed 2/20/2014.
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