Occipital pachygyria and polymicrogyria

Orpha code: 280640OMIM code: 614115

Definition

Occipital pachygyria and polymicrogyria is a rare, genetic, cerebral malformation characterized by the presence of cortical smoothening with loss of secondary and tertiary gyri, associated with an excessive number of small, irregular gyri with increased cortical thickness, located in the occipital lobes. Patients usually present with seizures (including myoclonic-astatic, absence, atypical absence, vision loss, myoclonic-atonic, generalized tonic-clonic) and variable (absent to moderate) developmental and/or intellectual delay.

Disease data
Classification

Malformation syndrome

Synonyms
Occipital MCD
Occipital malformations of cortical development
Potyliczne MCD
Occipital malformations of cortical development
ORPHA code
280640
OMIM code
614115
ICD10 code
Q04.3
ICD11 code
-

No additional description.

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