(A902) A Rare Presentation of FOXP1 Neurodevelopmental Disorder and Its Craniofacial Manifestations

Introduction: The Forkhead Box Proteins (FOXP1 and FOXP2) are critical transcription factors that are directly involved in the development of various systems, including the brain, heart, lung, esophagus, immune system, and spinal motor neurons. Specifically, mutations in FOXP1 has been linked to significant developmental, neurologic, and physical abnormalities. Physical abnormalities may include prominent forehead, short nose with broad tip, down-slanting palpebral fissures, ocular features, thick vermillion, high-arched palate, hypertrophy of the alveolar ridges, macrocephaly, malformed ears. Genomic studies have suggested that FOXP1 is involved in the jaw development and mutations may contribute to development of cleft palate.

Methods: N/A

Results: We present the case of a 5-year-old female who presented to our cleft and craniofacial clinic with a known history of de novo FOXP1 neurodevelopmental disorder (NDD). Her phenotypic presentation included a constellation of multiple congenital and developmental anomalies, such as strabismus, right eye esotropia, atrial septal defect (ASD), central cleft palate, kidney disease, and bilateral eustachian tube dysfunction.

Conclusions: We present a confirmed case of FOXP1 de novo mutation with cleft palate and various craniofacial abnormalities as part of her clinical presentation. The patient had undergone genetic testing and was not found to have another disorder to explain her craniofacial abnormalities.