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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Bilateral perisylvian polymicrogyria


Other Names for this Disease
  • CBPS
  • Congenital bilateral perisylvian syndrome
  • Perisylvian syndrome
  • Perisylvian syndrome, congenital bilateral
  • PMGX
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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What are the signs and symptoms of Bilateral perisylvian polymicrogyria?

The signs and symptoms of bilateral perisylvian polymicrogyria (BPP) vary but may include:[1][2]
  • Partial paralysis of muscles on both sides of the face, tongue, jaws, and throat 
  • Dysarthria
  • Difficulty chewing
  • Dysphagia
  • Mild to severe intellectual disability
  • Seizures and/or epilepsy
  • Sudden, involuntary spasms of facial muscles
  • Developmental delay
Last updated: 6/5/2015

The Human Phenotype Ontology provides the following list of signs and symptoms for Bilateral perisylvian polymicrogyria. 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)
Atypical absence seizures -
Cognitive impairment -
Delayed speech and language development -
Dyslexia -
Generalized tonic-clonic seizures -
Polymicrogyria -
Pseudobulbar paralysis -
X-linked dominant inheritance -

Last updated: 7/1/2015

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. Congenital Bilateral Perisylvian Syndrome. NORD. 2015; http://rarediseases.org/rare-diseases/congenital-bilateral-perisylvian-syndrome/.
  2. Kilinc O, Ekinci G, Demirkol E3, Agan K. Bilateral agenesis of arcuate fasciculus demonstrated by fiber tractography in congenital bilateral perisylvian syndrome. Brain Dev. March 2015; 37(3):352-355.


Other Names for this Disease
  • CBPS
  • Congenital bilateral perisylvian syndrome
  • Perisylvian syndrome
  • Perisylvian syndrome, congenital bilateral
  • PMGX
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.