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

## TL;DR

A male infant with a FOXC1 gene deletion showed multiple symptoms of Axenfeld-Rieger syndrome, highlighting the need for early genetic testing and coordinated care.

## Contribution

This case report expands the known phenotypic spectrum of FOXC1-related Axenfeld-Rieger syndrome type 3.

## Key findings

- The patient exhibited anterior segment anomalies, craniofacial differences, and auditory insufficiency.
- Genetic testing confirmed FOXC1-related Axenfeld-Rieger syndrome type 3 with an atrial communication defect.
- Early multidisciplinary care improved management of diverse systemic features.

## Abstract

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.