Fryns syndrome: A clinical conundrum

Abstract

Fryns syndrome is an uncommon autosomal recessive disorder with ocular signs and multisystem involvement with features like diaphragmatic defect, pulmonary hypoplasia, characteristic facial appearance, distal digital hypoplasia, etc., Associated ocular features reported till date are cloudy cornea, microphthalmos, hypertelorism, and retinal dysplasia. The pathogenesis of the syndrome is not well understood although mutations in PIGN gene in clinically diagnosed cases have been reported. Based on a French population study, the prevalence reported was 7 in 100,000 live births, but this prevalence was established before the advent of many genetic testing methodologies. Currently, there are no additional prevalence reports available. We report a 7-month-old female child who presented to us with recurrent acute on chronic dacryocystitis along with microcornea and iridofundal coloboma. Child underwent detailed systemic examination and was clinically diagnosed as Fryns syndrome.