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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
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?

Bilateral perisylvian polymicrogyria (BPP) may be apparent at birth, in infancy, or later during childhood.The main features associated with BPP are partial paralysis of the muscles on both sides of the face (facial diplegia), seizures, and mild to severe intellectual disability. In addition to partial paralysis of the facial muscles, the jaws, tongue and throat may also be affected; this may cause difficulty chewing, swallowing or pronouncing certain words and sounds. Some individuals also have sudden, involuntary muscle spasms in the face. In addition to intellectual disability, children with BPP may have delays in motor development.

CT and MRI studies of the brain may confirm the typical malformations in affected individuals, such as perisylvian malformations and abnormalities of the brain's deep folds and grooves. An analysis of speech may also reveal characteristic patterns among individuals with the condition, such as problems pronouncing certain vowels or noises.[1]
Last updated: 8/25/2011

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: 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. Perisylvian Syndrome, Congenital Bilateral. NORD. March 28, 2008; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1067/viewAbstract. Accessed 8/25/2011.


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