Porencephaly-cerebellar hypoplasia-internal malformations syndrome

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Porencephaly-cerebellar hypoplasia-internal malformations syndrome

Synonyms: Bonnemann-Meinecke syndrome

Porencephaly-cerebellar hypoplasia-internal malformations syndrome is rare central nervous system malformation syndrome characterized by bilateral porencephaly absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally dysmorphic facial features (hypertelorism epicanthic folds high arched palate prominent metopic suture) macrocephaly corneal clouding situs inversus tetralogy of Fallot atrial septal defects and/or seizures have been observed.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2024

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