Pfeiffer syndrome type 3 with FGR2 c.1052C>G (p.Ser351Cys) variant in West Africa: a case report

Pfeiffer syndrome is a rare genetic condition that includes anomalies of the head, hands, and feet. It was originally described by Rudolf Pfeiffer in 1964. As a result of varied clinical presentations, there is a low threshold for missing the diagnosis. Three (3) cases were found by the authors in the medical literature from the African continent, all of which lacked molecular studies. The main dysmorphic features we observed in our patient were; macrocephaly with widely gaped sagittal sutures, proptosis with ocular hypertelorism, ankylosed elbows, wide sandal gap and medially deviated broad great toes. In this case, sequence analysis using Illumina technology and deletion/duplication testing of 65 genes for variants associated with craniosynostosis syndromes was performed at Invitae Medical Genetic laboratory. A diagnosis of Pfeiffer syndrome type 3 with FGFR2 c.1052C>G (p.Ser351Cys) variant was made. In conclusion, this case will aid health care providers especially in areas of low accessibility to molecular studies to promptly identify, appropriately manage the condition as well as counselling the parents to offset the risk of abandonment of neonates with dysmorphic features

Unlocking sociocultural and community factors for the global adoption of genomic medicine

Advances in genomic sequencing and genetic testing are increasingly transforming the diagnosis and treatment of diseases—specifically, rare diseases. However, the application and benefit of such technologies remain inequitable globally. There is a clear and urgent need to provide genomic sequencing to people across the global population, including people living in under-resourced areas and/or underrepresented populations. Financial considerations are the most obvious barriers to the adoption of genomic medicine, yet there are many other factors that are not so obvious, such as geography, language, communication, and culture. Herein, we use the lens of rare diseases and focus on firstly, selected socio-cultural factors, and in particular stigma; and secondly, empowering community factors such as education, advocacy and connectivity amongst people living with rare diseases globally. These are critical areas of need and opportunity if genomic medicine is to achieve equitable and global adoption in the patient best-interest across low- middle- and high-income country health systems. Furthermore, we touch on specific child health aspects and how they can point towards opportunities to build on specific infrastructures