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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Bilateral frontoparietal polymicrogyria


Other Names for this Disease

  • BFPP
  • Cerebellar ataxia with neuronal migration defect
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 frontoparietal polymicrogyria?

The most commonly reported signs and symptoms in individuals with bilateral frontoparietal polymicrogyria (BFPP) include moderate to severe intellectual disability; motor and cognitive developmental delay; seizures; cerebellar dysfunction; and dysconjugate gaze (eyes that are not aligned). Other findings that have been reported include increased muscle tone; mild truncal ataxia (decreased ability to perform smoothly coordinated voluntary movements); finger dysmetria (difficulty controlling speed, distance and/or power of movements); and strabismus.

In addition to polymicrogyria, brain MRI studies may show enlarged ventricles, reduced white matter volume (showing areas containing nerve fibers), patchy white matter signal changes, and underdevelopment of the cerebellum and brainstem.[1]
Last updated: 8/24/2011

The Human Phenotype Ontology provides the following list of signs and symptoms for Bilateral frontoparietal 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)
Ankle clonus -
Autosomal recessive inheritance -
Babinski sign -
Broad-based gait -
Cerebellar hypoplasia -
Cerebral dysmyelination -
Esotropia -
Exotropia -
Frontoparietal polymicrogyria -
Hyperreflexia -
Hypertonia -
Hypoplasia of the brainstem -
Intellectual disability -
Nystagmus -
Polymicrogyria, anterior to posterior gradient -
Seizures -
Truncal ataxia -

Last updated: 9/2/2014

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. Cassandra L. Kniffin. POLYMICROGYRIA, BILATERAL FRONTOPARIETAL. OMIM. March 27, 2006; http://omim.org/entry/606854. Accessed 8/24/2011.


Other Names for this Disease
  • BFPP
  • Cerebellar ataxia with neuronal migration defect
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.