Cardiofacio-cutaneous syndrome: Classical presentation of a rare genodermatoses

Area of Science:

• Genetics
• Dermatology
• Pediatrics

Background:

• Cardiofacio-cutaneous syndrome (CFC) is a rare genodermatosis.
• It is characterized by multiple congenital anomalies (MCA) and intellectual disability.
• While genetic mutations are known, clinical diagnosis is often based on symptom presentation.

Observation:

• This report presents a classical case of CFC.
• The patient exhibited typical craniofacial features associated with the syndrome.
• An atrial septal defect was also noted as a significant anomaly.

Findings:

• The case aligns with the established clinical diagnostic criteria for CFC.
• The constellation of craniofacial anomalies and cardiac defect supports the diagnosis.
• This reinforces the importance of clinical evaluation in diagnosing rare genetic disorders.

Implications:

• Accurate clinical diagnosis of CFC is crucial for timely management and genetic counseling.
• Understanding the phenotypic spectrum aids in identifying affected individuals.
• Further research into genotype-phenotype correlations can refine diagnostic and therapeutic strategies.