To obtain an overview of neurological comorbidities of cardiofaciocutaneous syndrome (CFC).

CFC is a rare autosomal dominant disorder characterized by craniofacial dysmorphisms, skin findings, cardiac defects, severe developmental disabilities and seizures. It belongs to a family of disorders that result from altered function of the RAS/MAPK pathway. This disorder comes coupled with significant neurological comorbidities, including heightened risk for autism, intellectual disability and seizures. Because of the rarity of this disorder, the prevalence of these comorbidities has been uncertain.

Families of 94 patients (54% female, age ranges 0.6-28.6 years) completed the questionnaire. Sensory abnormalities were common, including vision impairment (63/94 patients; 67.0%) and hearing impairment (20/94 patients; 21.3%). Behavioral and cognitive disabilities were also common, with 66/94 (70.2%) patients reported to have intellectual disability and 23/94 (24.5%) with autism. Fifty-six (59.6%) of the total cohort suffered from epilepsy, of which 29 had medically refractory epilepsy. Ten of the cohort (10.6%) had a history of infantile spasms. Three of the cohort were deceased, all of whom had medically refractory epilepsy. Only 2 members of the total cohort had any history of malignancy, neither of whom were deceased.