A Rare Case of Apert Syndrome in a Tanzanian Newborn: Diagnosis and Management Challenges in a National Tertiary Hospital

Introduction: Apert syndrome is a rare congenital condition characterized by coronal craniosynostosis, ex orbitism, midface hypoplasia as well as symmetric syndactyly of both feet and hands. This condition is also known as acrocephalosyndactyly type 1. Apert syndrome is linked by autosomal dominant inheritance to fibroblast growth factors receptor gene alteration. Case Report: This is the case report of a 42 days old baby who presented with classical facial features of Apert syndrome. Syndactyly of both fingers and toes. He was born from non-consanguineous parents, his father being 44 years old when the baby was born. An X-ray of the skull revealed increase in anterior posterior diameter of the skull, while cranial ultra sound depicted no evidence of space occupying lesions, no evidence of extra axial collection with no signs of midline shift. X-ray of hands and feet revealed the pathognomonic syndactyly of the disease. Conclusion: There is a paucity of data about Apert Syndrome in African countries. Which poses the emphasis on the advocacy of this condition in African countries for more cases to be reported to capacitate the healthcare workers to diagnose and treat this rare condition properly. Given the limitations of genetic testing and prenatal screening in the region, this case call for action for the need to increase awareness, early intervention and genetic counseling to guide treatment decisions and improve outcomes.