Multisystemic Features and Genetic Analysis in a Child with Cardiofaciocutaneous Syndrome

Abstract

Introduction: Cardiofaciocutaneous (CFC) syndrome is a rare RASopathy with marked clinical heterogeneity, characterized by developmental delay, facial dysmorphism, cutaneous anomalies, and occasionally congenital heart defects. Case report: We report a 6-year-old boy with global psychomotor delay, characteristic facial dysmorphism, cutaneous xerosis, and epilepsy onset at 5 years, well controlled with monotherapy. Brain imaging revealed diffuse hypoplasia of the corpus callosum. Whole-exome sequencing identified a heterozygous missense mutation in the MAP2K1 gene, consistent with CFC type 3. The patient benefits from multidisciplinary follow-up (neurological, dermatological, endocrinological, and child psychiatric). Conclusion: This case illustrates a typical CFC phenotype, highlights the importance of early recognition of clinical signs and genetic confirmation, and emphasizes the need for comprehensive multidisciplinary management.