Detection of a new heterozygous pathogenic NFIA variant in metopic craniosynostosis with preaxial polysyndactyly: A case report

Sipho Simon Nhongo; Eilidh Simpson; Moorthy Halsnad; Meharpal Sangra; Ahad Shafi; Jamie Campbell; Louise Thompson; David Moore

doi:10.1016/j.jpra.2025.05.013

Detection of a new heterozygous pathogenic NFIA variant in metopic craniosynostosis with preaxial polysyndactyly: A case report

JPRAS Open. 2025 Jun 3:45:170-175. doi: 10.1016/j.jpra.2025.05.013. eCollection 2025 Sep.

Authors

Sipho Simon Nhongo¹, Eilidh Simpson², Moorthy Halsnad³, Meharpal Sangra⁴, Ahad Shafi³, Jamie Campbell⁵, Louise Thompson⁶, David Moore⁶

Affiliations

¹ Specialty Registrar, Oral and Maxillofacial Surgery, Scottish National Centre for Craniofacial Surgery, Royal Hospital for Children, Glasgow, UK.
² Third Year Medical Student at the University of Glasgow, Glasgow, UK.
³ Consultant Cranio-Maxillofacial Surgeon, Scottish National Centre for Craniofacial Surgery, Royal Hospital for Children, Glasgow, UK.
⁴ Consultant Paediatric Neurosurgeon & Craniofacial Surgeon, Scottish National Centre for Craniofacial Surgery, Royal Hospital for Children, Glasgow, UK.
⁵ Consultant in Clinical Genetics, Institute of Genetics and Cancer, Edinburgh, UK.
⁶ Clinical Scientist, South East Scotland Genetic Service, Western General Hospital, Edinburgh, UK.

Abstract

Craniosynostosis is a congenital condition caused by the early fusion of one or more skull vault sutures during embryological development, resulting in an abnormal head shape. This condition has been linked to many gene variants. The authors report a case of a novel heterozygous pathogenic NFIA variant, in a young boy presenting with metopic craniosynostosis with preaxial polysyndactyly. Craniosynostosis is a rarely reported feature of Nuclear factor I/A (NFIA) related disorder. This report highlights the investigations that were performed to identify this variant and details the child's surgical management and outcome.

Keywords: Craniosynostosis; NFIA; Polysyndactyly; Variant.

Publication types

Case Reports