Occipital pachygyria and polymicrogyria

Orpha code: 280640OMIM code: 614115

Definicja

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
Klasyfikacja

Malformation syndrome

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

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl