CARDIOFACIOCUTANEOUS SYNDROME (CFCS) IN THE LIGHT OF CONTEMPORARY RESEARCH - A REVIEW OF THE LITERATURE

Patrycja Walkiewicz; Anna Rakoczy; Gabriela Prucnal; Jowita Frydrych; Karolina Ochyra; Karolina Ryba; Katarzyna Znamirowska; Klaudia Zacher; Kornelia Pudło; Martyna Bukała

doi:10.31435/ijitss.4(48).2025.4136

Authors

Patrycja Walkiewicz University Teaching Hospital them. F. Chopin in Rzeszów, Rzeszów, Poland https://orcid.org/0009-0002-0492-9485
Anna Rakoczy University Teaching Hospital them. F. Chopin in Rzeszów, Rzeszów, Poland https://orcid.org/0009-0001-1096-161X
Gabriela Prucnal University Teaching Hospital them. F. Chopin in Rzeszów, Rzeszów, Poland https://orcid.org/0009-0003-6633-6498
Jowita Frydrych University Teaching Hospital them. F. Chopin in Rzeszów, Rzeszów, Poland https://orcid.org/0009-0003-5416-7252
Karolina Ochyra Medical Center in Łańcut, Łańcut, Poland https://orcid.org/0009-0009-7525-3014
Karolina Ryba University Teaching Hospital them. F. Chopin in Rzeszów, Rzeszów, Poland https://orcid.org/0009-0007-4305-8375
Katarzyna Znamirowska University Teaching Hospital them. F. Chopin in Rzeszów, Rzeszów, Poland https://orcid.org/0009-0005-6760-2174
Klaudia Zacher Medical Center in Łańcut, Łańcut, Poland https://orcid.org/0009-0003-8839-9668
Kornelia Pudło Independent Public Health Care Complex No. 1 in Rzeszów, Rzeszów, Poland https://orcid.org/0009-0007-1415-6048
Martyna Bukała Medical Center in Łańcut, Łańcut, Poland https://orcid.org/0009-0002-9288-4140

DOI:

https://doi.org/10.31435/ijitss.4(48).2025.4136

Keywords:

Cardiofaciocutaneous Syndrome, Ras/MAPK, RASopathies, CFC, BRAF Mutation

Abstract

The term RASopathies was introduced to describe a group of genetic syndromes that share similar phenotypic features and a common molecular basis. RASopathies are among the most numerous groups of recognized congenital developmental disorders. These syndromes have variable clinical courses, and the phenotypic features observed in newborns may differ from those seen in later stages of life - childhood, adolescence, or adulthood - which significantly complicates accurate clinical diagnosis. The underlying cause of these disorders involves mutations in genes encoding proteins associated with the Ras/MAPK (mitogen-activated protein kinase) signaling pathway. Cardiofaciocutaneous syndrome (CFCS) is a representative RASopathy, clinically defined by distinctive craniofacial dysmorphism, congenital heart defects, dermatological anomalies, postnatal growth retardation, and varying degrees of intellectual disability. Recent advances in molecular genetics have facilitated, at least to some extent, the differential diagnosis of CFCS, thereby improving diagnostic accuracy. Lifelong, multidisciplinary medical management is essential for both pediatric and adult patients, necessitating coordinated care involving specialists from various medical fields. This article focuses on the molecular pathogensis, clinical features, prenatal findings and recommended evaluations following initial diagnosis.

Materials: We conducted a review and analysis of the literature available in the PubMed database, using keywords.

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