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Definition

A developmental malformation syndrome characterized by craniofacial abnormalities, congenital heart defects, and cerebellar brain malformations. Facial features include prominent occiput, prominent forehead, low-set ears, downslanting palpebral fissures, depressed nasal bridge, and micrognathia. Cardiac defects can include septal defects and aortic stenosis, among others, and brain imaging shows Dandy-Walker malformation, cerebellar vermis hypoplasia, posterior fossa cysts, and ventricular dilatation. Affected individuals have severe developmental delay.

Acronym

RTSC1

Synonyms

3C syndrome
Craniocerebellocardiac dysplasia
Dandy-Walker-like malformation with atrioventricular septal defect

Keywords

Mental retardation