Fryns Syndrome

“Fryns syndrome is a rare genetic condition in which multiple abnormalities are present at birth. Characteristics of the syndrome are broadly categorized into diaphragmatic defects (diaphragmatic hernia) with incomplete development of the lungs, distinctive facial features, underdevelopment of the ends of the fingers and toes (distal digital hypoplasia), and other associated abnormalities of the brain, eyes, heart, gastrointestinal and genitourinary system. Fryns syndrome is thought to be inherited as an autosomal recessive condition, but the specific causal gene or genes have not yet been identified.” Read More


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