National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Pachygyria


Other Names:
Macrogyria; Broad gyri of cerebrum; Large gyri of cerebrum
Categories:
Subtypes:
Pachygyria is a developmental condition due to abnormal migration of nerve cells (neurons) in the developing brain and nervous system.[1] With pachygyria, there are few gyri (the ridges between the wrinkles in the brain), and they are usually broad and flat. The condition is also known as "incomplete lissencephaly."[2][3] Pachygyria may occur alone (isolated) or as part of various underlying syndromes. Symptoms vary among affected people and may include moderate to severe developmental delay, seizures, poor muscle tone and control, feeding or swallowing difficulties, and small head size (microcephaly).[1] In most cases it is not inherited, but various inheritance patterns have been reported.[1][4] Treatment is symptomatic and supportive.[1][2]
Last updated: 2/20/2014
Signs and symptoms of pachygyria vary among affected people and can depend on the extent of the abnormality. They often include poor muscle tone and motor function; seizures; developmental delays; intellectual disability; failure to grow and thrive; difficulties with feeding or swallowing; swelling in the extremities; and small head size (microcephaly). Most infants appear physically normal, but some conditions associated with pachygyria cause distinctive facial or skull characteristics.[1]
Last updated: 2/20/2014

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 20 |
Medical Terms Other Names
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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 developmental delay 0001263
Intellectual disability, severe
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ] 		0010864
Muscular hypotonia
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
Autosomal recessive inheritance 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 encephalopathy 0007069
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Last updated: 7/1/2020
Pachygyria, also called "incomplete lissencephaly," may be caused by various non-genetic (environmental) and genetic factors that play a role in impairing the development of the outer region of the brain (the cerebral cortex).[5] The cerebral cortex is responsible for conscious movement and thought, and should have deep convolutions (gyri) and grooves (sulci), which are formed by "infolding" of the cerebral cortex. During normal embryonic growth, immature cells that later develop into specialized nerve cells (neurons) normally migrate to the brain's surface, making several layers of cells. When this process is impaired, the cells don't migrate to their locations, resulting in too few cell layers and absence (agyria) or incomplete development (pachygyria) of gyri.[5]

Environmental factors that contribute to the condition may include intrauterine infection during pregnancy (such as a virus), and insufficient flow of oxygenated blood to the brain (ischemia) during fetal development.[5]

More than 25 syndromes due to abnormal migration of neurons have been reported; in some of these cases, the genetic cause and pattern of inheritance depends on that of the specific syndrome.[1][4]

Mutations in several genes have been identified in people with abnormalities of cortical development, including the KIF5C, KIF2A, DYNC1H1, WDR62, and TUBG1 genes.[6] Studies have also found that isolated lissencephaly may result from mutations in the LIS1 and XLIS (also called DCX) genes.[5]

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.
Last updated: 2/20/2014
Because the symptoms of the condition vary from person to person, treatment is symptomatic, and may include anti-seizure medication, such as Trileptal, and special or supplemental education consisting of physical, occupational, and speech therapies.[1][2]
Last updated: 2/20/2014
The long-term outlook (prognosis) varies depending on the underlying cause, the degree of brain abnormality and subsequent neurological losses.[1]
Last updated: 2/20/2014

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

  • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.
  • ClinicalTrials.gov lists trials that are related to Pachygyria. 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.
  • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query".

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

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

In-Depth Information

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 the cause of pachygyria? See answer

  • I have been diagnosed with pachygyria (macrogyria). I don't have mental retardation, in fact I have a high IQ. I have severe migraines and recently started having seizures. Could pachygyria be causing my problems? Are there any other problems that could be caused by pachygyria? Is there a treatment for it? Also, what is pseudobulbar palsy? See answer

  • My child has been diagnosed with pachygyria. What can I expect for my child's future? See answer


  1. 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.
  2. Grainger & Allison's Diagnostic Radiology: A Textbook of Medical Imaging, 4th ed.. 2001;
  3. 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/.
  4. Straussberg R, Gross S, Amir J, Gadoth N. A new autosomal recessive syndrome of pachygyria. Clin Genet. 1996; http://www.ncbi.nlm.nih.gov/pubmed/9147882.
  5. LISSENCEPHALY. NORD. September 6, 2012; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/454/viewAbstract. Accessed 2/20/2014.
  6. 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.