Expanding the Phenotypic Spectrum of FOXC1-Related Axenfeld-Rieger Syndrome Type 3: A Case Report

Axenfeld-Rieger syndrome (ARS) is an inherited disorder that commonly affects ocular and other systemic structures. We introduce a case of a male infant who presented to the clinic after genomic microarray testing discovered a chromosomal deletion involving the FOXC1 gene. The patient was found to have anterior segment anomalies, craniofacial differences, auditory insufficiency, and other systemic findings such as an atrial communication defect throughout the first two years of life. Genetic testing performed shortly after birth supported the diagnosis of ARS as the cause of these various findings. This early recognition of ARS permitted prompt initiation of multidisciplinary care and allowed the patient to receive the appropriate ophthalmologic, cranial, renal, cardiac, and developmental testing to provide sufficient care and future monitoring. This case highlights the importance of genetic evaluation and ongoing coordinated care to anticipate and manage the diverse features of patients with ARS.