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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Pachygyria


Other Names for this Disease

  • Broad gyri of cerebrum
  • Large gyri of cerebrum
  • Macrogyria
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Symptoms

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What are the signs and symptoms of pachygyria?

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

The Human Phenotype Ontology provides the following list of signs and symptoms for Pachygyria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Cognitive impairment 90%
Seizures 90%
Premature birth 50%
Abnormality of the skeletal system -
Arachnoid cyst -
Atypical absence seizures -
Autosomal recessive inheritance -
Generalized tonic-clonic seizures -
Intellectual disability -
Pachygyria -
Profound static encephalopathy -

Last updated: 12/1/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. NINDS Neuronal Migration Disorders Information Page. National Institute of Neurological Disorders and Stroke (NINDS) Web site. 2007; http://www.ninds.nih.gov/health_and_medical/disorders/neuronal_migration.htm. Accessed 8/18/2009.


Other Names for this Disease
  • Broad gyri of cerebrum
  • Large gyri of cerebrum
  • Macrogyria
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.