porencephaly-cerebellar hypoplasia-internal malformations 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.
MONDO:0005071
nervous system disorder
is_a
Bonnemann Meinecke syndrome
related
Bonnemann-Meinecke syndrome
exact
porencephaly cerebellar hypoplasia internal malformations
related