ZNF469 mutation in a case of Ehlers–Danlos syndrome presenting with glomerulonephritis

Abstract

Ehlers Danlos syndrome is the term applied to a group of rare genetic disorders charactersised by joint hypermobility, skin fragility and hyperextensibility. However the syndrome includes patients with rare distinctive features like severe muscle hypotonia, marfanoid habitus, kyphoscoliosis, osteopenia, keratoconus and eye globe rupture. We present a case of Ehlers-Danlos Syndrome Type VI, with ZNF 469 mutation affecting two siblings born out of consanguineous marriage. The following core competencies are addressed in this article: Medical knowledge, Patient care, Systems-based practice.