Stüve-Wiedemann syndrome (OMIM #601559) is a rare, autosomal recessive disorder characterized by skeletal dysplasia, consecutive infections, feeding difficulties and autonomic dysregulation. We present an Afro-Caribbean family with two siblings diagnosed with Stüve-Wiedemann syndrome. The underlying loss-of-function mutation in the leukemia inhibitory factor receptor gene is thought to impair proper functioning of the JAK/STAT 3 pathway. As this affects normal functioning of T-helper cells, these patients are prone to infections with uncommon pathogens as illustrated by this case.
van de Maele, K., Smulders, C., Ecury-Goossen, G., Rosina-Angelista, I., Redeker, E., & van Haelst, M. (2019). Stuve-Wiedemann syndrome: Recurrent neonatal infections caused by impairment of JAK/STAT 3 pathway. Clinical Dysmorphology, 28(2), 57-62. https://doi.org/10.1097/MCD.0000000000000255