Myrrhe Venema

Abstract Cardiofacioneurodevelopmental syndrome (CFNDS, MIM:619123) is a rare genetic disorder caused by bi-allelic pathogenic variants in CCDC32. So far, CFNDS has only been described in four living individuals and one terminated fetus from four families, and the clinical phenotype can include microcephaly, facial malformations, developmental delay, cerebellar hypoplasia, and cardiac anomalies.

1 Introduction Moyamoya syndrome is an angiopathy of the cerebral vasculature, characterised by progressive stenosis of the intracranial internal carotid arteries, leading to reduced blood flow in the anterior circulation of the brain and compensatory development of new blood vessels [1]. The formation of collateral vessels creates a typical pattern on angiography, resembling ‘a puff of cigarette smoke’, or moyamoya in Japanese [1].